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{{ | '''Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1''' is an [[enzyme]] that in humans is encoded by the ''POMGNT1'' [[gene]].<ref name="pmid11742540">{{cite journal |vauthors=Zhang W, Betel D, Schachter H | title = Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I | journal = Biochem J | volume = 361 | issue = Pt 1 | pages = 153–62 |date=Dec 2001 | pmid = 11742540 | pmc = 1222290 | doi = 10.1042/0264-6021:3610153}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55624| accessdate = }}</ref> | ||
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== Function == | |||
The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. A mutation in this gene is the cause of [[muscle-eye-brain disease]] (MIM 253280).<ref name=meb>{{Cite web|url=http://www.omim.org/entry/253280|title=OMIM Entry - # 253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3|website=www.omim.org|access-date=2016-04-26}}</ref> | |||
==References== | == References == | ||
{{reflist | {{reflist}} | ||
==Further reading== | |||
{{refbegin | 2}} | === Further reading === | ||
{{refbegin|2}} | |||
*{{cite journal |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }} | |||
*{{cite journal | | *{{cite journal | author=Suzuki Y |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 |name-list-format=vanc| author2=Yoshitomo-Nakagawa K | author3=Maruyama K | display-authors=3 | last4=Suyama | first4=A | last5=Sugano | first5=S }} | ||
*{{cite journal | author=Suzuki Y | *{{cite journal | author=Cormand B |title=Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping |journal=Am. J. Hum. Genet. |volume=64 |issue= 1 |pages= 126–35 |year= 1999 |pmid= 9915951 |doi=10.1086/302206 | pmc=1377710 |name-list-format=vanc| author2=Avela K | author3=Pihko H | display-authors=3 | last4=Santavuori | first4=Pirkko | last5=Talim | first5=Beril | last6=Topaloglu | first6=Haluk | last7=De La Chapelle | first7=Albert | last8=Lehesjoki | first8=Anna-Elina }} | ||
*{{cite journal | author=Dias Neto E |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491–6 |year= 2000 |pmid= 10737800 |doi=10.1073/pnas.97.7.3491 | pmc=16267 |name-list-format=vanc| author2=Correa RG | author3=Verjovski-Almeida S | display-authors=3 | last4=Briones | first4=MR | last5=Nagai | first5=MA | last6=Da Silva Jr | first6=W | last7=Zago | first7=MA | last8=Bordin | first8=S | last9=Costa | first9=FF }} | |||
*{{cite journal | author=Yoshida A |title=Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 |journal=Dev. Cell |volume=1 |issue= 5 |pages= 717–24 |year= 2002 |pmid= 11709191 |doi=10.1016/S1534-5807(01)00070-3 |name-list-format=vanc| author2=Kobayashi K | author3=Manya H | display-authors=3 | last4=Taniguchi | first4=Kiyomi | last5=Kano | first5=Hiroki | last6=Mizuno | first6=Mamoru | last7=Inazu | first7=Toshiyuki | last8=Mitsuhashi | first8=Hideyo | last9=Takahashi | first9=Seiichiro }} | |||
*{{cite journal | author=Triki C |title=Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients |journal=Neuromuscul. Disord. |volume=13 |issue= 1 |pages= 4–12 |year= 2003 |pmid= 12467726 |doi=10.1016/S0960-8966(02)00188-8 |name-list-format=vanc| author2=Louhichi N | author3=Méziou M | display-authors=3 | last4=Choyakh | first4=Fakher | last5=Kéchaou | first5=Mohamed Salah | last6=Jlidi | first6=Rachid | last7=Mhiri | first7=Chokri | last8=Fakhfakh | first8=Faiza | last9=Ayadi | first9=Hamadi }} | |||
*{{cite journal | author= | *{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }} | ||
*{{cite journal | author=Taniguchi K |title=Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease |journal=Hum. Mol. Genet. |volume=12 |issue= 5 |pages= 527–34 |year= 2003 |pmid= 12588800 |doi=10.1093/hmg/ddg043 |name-list-format=vanc| author2=Kobayashi K | author3=Saito K | display-authors=3 | last4=Yamanouchi | first4=H | last5=Ohnuma | first5=A | last6=Hayashi | first6=YK | last7=Manya | first7=H | last8=Jin | first8=DK | last9=Lee | first9=M }} | |||
*{{cite journal | author=Manya H |title=Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease |journal=Biochem. Biophys. Res. Commun. |volume=306 |issue= 1 |pages= 93–7 |year= 2003 |pmid= 12788071 |doi=10.1016/S0006-291X(03)00924-0 |name-list-format=vanc| author2=Sakai K | author3=Kobayashi K | display-authors=3 | last4=Taniguchi | first4=Kiyomi | last5=Kawakita | first5=Masao | last6=Toda | first6=Tatsushi | last7=Endo | first7=Tamao }} | |||
*{{cite journal | author=Clark HF |title=The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 | pmc=403697 |name-list-format=vanc| author2=Gurney AL | author3=Abaya E | display-authors=3 | last4=Baker | first4=K | last5=Baldwin | first5=D | last6=Brush | first6=J | last7=Chen | first7=J | last8=Chow | first8=B | last9=Chui | first9=C }} | |||
*{{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }} | |||
*{{cite journal | author=Akasaka-Manya K |title=Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1 |journal=Biochem. Biophys. Res. Commun. |volume=320 |issue= 1 |pages= 39–44 |year= 2004 |pmid= 15207699 |doi= 10.1016/j.bbrc.2004.05.129 |name-list-format=vanc| author2=Manya H | author3=Kobayashi K | display-authors=3 | last4=Toda | first4=Tatsushi | last5=Endo | first5=Tamao }} | |||
*{{cite journal | author= | *{{cite journal | author=Vervoort VS |title=POMGnT1 gene alterations in a family with neurological abnormalities |journal=Ann. Neurol. |volume=56 |issue= 1 |pages= 143–8 |year= 2004 |pmid= 15236414 |doi= 10.1002/ana.20172 |name-list-format=vanc| author2=Holden KR | author3=Ukadike KC | display-authors=3 | last4=Collins | first4=Julianne S. | last5=Saul | first5=Robert A. | last6=Srivastava | first6=Anand K. }} | ||
*{{cite journal | author=Diesen C |title=POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease |journal=J. Med. Genet. |volume=41 |issue= 10 |pages= e115 |year= 2005 |pmid= 15466003 |doi= 10.1136/jmg.2004.020701 | pmc=1735594 |name-list-format=vanc| author2=Saarinen A | author3=Pihko H | display-authors=3 | last4=Rosenlew | first4=C | last5=Cormand | first5=B | last6=Dobyns | first6=WB | last7=Dieguez | first7=J | last8=Valanne | first8=L | last9=Joensuu | first9=T }} | |||
*{{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }} | |||
*{{cite journal | author= | *{{cite journal | author=Kimura K |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 |name-list-format=vanc| author2=Wakamatsu A | author3=Suzuki Y | display-authors=3 | last4=Ota | first4=T | last5=Nishikawa | first5=T | last6=Yamashita | first6=R | last7=Yamamoto | first7=J | last8=Sekine | first8=M | last9=Tsuritani | first9=K }} | ||
*{{cite journal | author=Gregory SG |title=The DNA sequence and biological annotation of human chromosome 1 |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |name-list-format=vanc| author2=Barlow KF | author3=McLay KE | display-authors=3 | last4=Kaul | first4=R. | last5=Swarbreck | first5=D. | last6=Dunham | first6=A. | last7=Scott | first7=C. E. | last8=Howe | first8=K. L. | last9=Woodfine | first9=K. }} | |||
*{{cite journal | author= | *{{cite journal |vauthors=Abbott KL, Troupe K, Lee I, Pierce M |title=Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb |journal=Exp. Cell Res. |volume=312 |issue= 15 |pages= 2837–50 |year= 2006 |pmid= 16857188 |doi= 10.1016/j.yexcr.2006.05.022 }} | ||
*{{cite journal | | |||
}} | |||
{{refend}} | {{refend}} | ||
{{ | ==External links== | ||
* [https://www.ncbi.nlm.nih.gov/books/NBK1291/ GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview] | |||
{{gene-1-stub}} |
Latest revision as of 18:27, 7 September 2017
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
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Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1 gene.[1][2]
Function
The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. A mutation in this gene is the cause of muscle-eye-brain disease (MIM 253280).[3]
References
- ↑ Zhang W, Betel D, Schachter H (Dec 2001). "Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I". Biochem J. 361 (Pt 1): 153–62. doi:10.1042/0264-6021:3610153. PMC 1222290. PMID 11742540.
- ↑ "Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase".
- ↑ "OMIM Entry - # 253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3". www.omim.org. Retrieved 2016-04-26.
Further reading
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Cormand B, Avela K, Pihko H, et al. (1999). "Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping". Am. J. Hum. Genet. 64 (1): 126–35. doi:10.1086/302206. PMC 1377710. PMID 9915951.
- Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
- Yoshida A, Kobayashi K, Manya H, et al. (2002). "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1". Dev. Cell. 1 (5): 717–24. doi:10.1016/S1534-5807(01)00070-3. PMID 11709191.
- Triki C, Louhichi N, Méziou M, et al. (2003). "Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients". Neuromuscul. Disord. 13 (1): 4–12. doi:10.1016/S0960-8966(02)00188-8. PMID 12467726.
- 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.
- Taniguchi K, Kobayashi K, Saito K, et al. (2003). "Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease". Hum. Mol. Genet. 12 (5): 527–34. doi:10.1093/hmg/ddg043. PMID 12588800.
- Manya H, Sakai K, Kobayashi K, et al. (2003). "Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease". Biochem. Biophys. Res. Commun. 306 (1): 93–7. doi:10.1016/S0006-291X(03)00924-0. PMID 12788071.
- Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Akasaka-Manya K, Manya H, Kobayashi K, et al. (2004). "Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1". Biochem. Biophys. Res. Commun. 320 (1): 39–44. doi:10.1016/j.bbrc.2004.05.129. PMID 15207699.
- Vervoort VS, Holden KR, Ukadike KC, et al. (2004). "POMGnT1 gene alterations in a family with neurological abnormalities". Ann. Neurol. 56 (1): 143–8. doi:10.1002/ana.20172. PMID 15236414.
- Diesen C, Saarinen A, Pihko H, et al. (2005). "POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease". J. Med. Genet. 41 (10): e115. doi:10.1136/jmg.2004.020701. PMC 1735594. PMID 15466003.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- 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.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
- Abbott KL, Troupe K, Lee I, Pierce M (2006). "Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb". Exp. Cell Res. 312 (15): 2837–50. doi:10.1016/j.yexcr.2006.05.022. PMID 16857188.
External links
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