“POMGNT1”的意思、由来-开放百科全书

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

1. ^{{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}}
2. ^{{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 = }}
3. ^{{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}}

Further reading

{{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 | 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=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=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=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=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 |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 }}

Function

References

Further reading

External links