Details for: POMGNT1
Associated with
Other Information
Genular Protein ID: 1442263773
Symbol: PMGT1_HUMAN
Name: Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11709191
Title: Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
PubMed ID: 11709191
PubMed ID: 12588800
Title: Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
PubMed ID: 12588800
DOI: 10.1093/hmg/ddg043
PubMed ID: 12975309
Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
PubMed ID: 12975309
DOI: 10.1101/gr.1293003
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 11742540
Title: Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.
PubMed ID: 11742540
PubMed ID: 17034757
Title: Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.
PubMed ID: 17034757
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 28512129
Title: Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.
PubMed ID: 28512129
PubMed ID: 12788071
Title: Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.
PubMed ID: 12788071
PubMed ID: 15207699
Title: Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.
PubMed ID: 15207699
PubMed ID: 27493216
Title: Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of alpha-dystroglycan.
PubMed ID: 27493216
PubMed ID: 15236414
Title: POMGnT1 gene alterations in a family with neurological abnormalities.
PubMed ID: 15236414
DOI: 10.1002/ana.20172
PubMed ID: 15466003
Title: POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
PubMed ID: 15466003
PubMed ID: 17030669
Title: POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
PubMed ID: 17030669
PubMed ID: 19067344
Title: Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
PubMed ID: 19067344
DOI: 10.1002/ana.21482
PubMed ID: 18195152
Title: Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
PubMed ID: 18195152
PubMed ID: 19299310
Title: Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
PubMed ID: 19299310
PubMed ID: 26908613
Title: Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
PubMed ID: 26908613
DOI: 10.1093/hmg/ddw022
PubMed ID: 27391550
Title: Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
PubMed ID: 27391550
Sequence Information:
- Length: 660
- Mass: 75252
- Checksum: C58D0E543E033F17
- Sequence:
MDDWKPSPLI KPFGARKKRS WYLTWKYKLT NQRALRRFCQ TGAVLFLLVT VIVNIKLILD TRRAISEANE DPEPEQDYDE ALGRLEPPRR RGSGPRRVLD VEVYSSRSKV YVAVDGTTVL EDEAREQGRG IHVIVLNQAT GHVMAKRVFD TYSPHEDEAM VLFLNMVAPG RVLICTVKDE GSFHLKDTAK ALLRSLGSQA GPALGWRDTW AFVGRKGGPV FGEKHSKSPA LSSWGDPVLL KTDVPLSSAE EAECHWADTE LNRRRRRFCS KVEGYGSVCS CKDPTPIEFS PDPLPDNKVL NVPVAVIAGN RPNYLYRMLR SLLSAQGVSP QMITVFIDGY YEEPMDVVAL FGLRGIQHTP ISIKNARVSQ HYKASLTATF NLFPEAKFAV VLEEDLDIAV DFFSFLSQSI HLLEEDDSLY CISAWNDQGY EHTAEDPALL YRVETMPGLG WVLRRSLYKE ELEPKWPTPE KLWDWDMWMR MPEQRRGREC IIPDVSRSYH FGIVGLNMNG YFHEAYFKKH KFNTVPGVQL RNVDSLKKEA YEVEVHRLLS EAEVLDHSKN PCEDSFLPDT EGHTYVAFIR MEKDDDFTTW TQLAKCLHIW DLDVRGNHRG LWRLFRKKNH FLMVGVPASP YSVKKPPSVT PIFLEPPPKE EGAPGAPEQT
Genular Protein ID: 1616163094
Symbol: B7Z7F2_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 517
- Mass: 58765
- Checksum: A0825F828D5AA522
- Sequence:
MAKSVFDTYS PHEDEAMVLF LNMVAPGRVL ICTVKDEGSF HLKDTAKALL RSLGSQAGPA LGWRDTWAFV GRKGGPVFGE KHSKSPALSS WGDPVLLKTD VPLSSAEEAE CHWADTELNR RRRRFCSKVE GYGSVCSCKD PTPIEFSPDP LPDNKVLNVP VAVIAGNRPN YLYRMLRSLL SAQGVSPQMI TVFIDGYYEE PMDVVALFGL RGIQHTPISI KNARVSQHYK ASLTATFNLF PEAKFAVVLE EDLDIAVDFF SFLSQSIHLL EEDDSLYCIS AWNDQGYEHT AEDPALLYRV ETMPGLGWVL RRSLYKEELE PKWPTPEKLW DWDMWMRMPE QRRGRECIIP DVSRSYHFGI VGLNMNGYFH EAYFKKHKFN TVPGVQLRNV DSLKKEAYEV EVHRLLSEAE VLDHSKNPCE DSFLPDTEGH TYVAFIRMEK DDDFTTWTQL AKCLHIWDLD VRGNHRGLWR LFRKKNHFLV VGVPASPYSV KKPPSVTPIF LEPPPKEEGA PGAPEQT
Genular Protein ID: 2220821799
Symbol: A0A8I5KNB7_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
Sequence Information:
- Length: 718
- Mass: 81703
- Checksum: F5BEE0647D31EEE4
- Sequence:
MDDWKPSPLI KPFGARKKRS WYLTWKYKLT NQRALRRFCQ TGAVLFLLVT VIVNIKLILD TRRAISEANE DPEPEQDYDE ALGRLEPPRR RGSGPRRVLD VEVYSSRSKV YVAVDGTTVL EDEAREQGRG IHVIVLNQAT GHVMAKRVFD TYSPHEDEAM VLFLNMVAPG RVLICTVKDE GSFHLKDTAK ALLRSLGSQA GPALGWRDTW AFVGRKGGPV FGEKHSKSPA LSSWGDPVLL KTDVPLSSAE EAECHWADTE LNRRRRRFCS KVEGYGSVCS CKDPTPIEFS PDPLPDNKVL NVPVAVIAGN RPNYLYRMLR SLLSAQGVSP QMITVFIDGY YEEPMDVVAL FGLRGIQHTP ISIKNARVSQ HYKASLTATF NLFPEAKFAV VLEEDLDIAV DFFSFLSQSI HLLEEDDSLY CISAWNDQGY EHTAEDPALL YRVETMPGLG WVLRRSLYKE ELEPKWPTPE KLWDWDMWMR MPEQRRGREC IIPDVSRSYH FGIVGLNMNG YFHEAYFKKH KFNTVPGVQL RNVDSLKKEA YEVEVHRLLS EAEVLDHSKN PCEDSFLPDT EGHTYVAFIR MEKDDDFTTW TQLAKCLHIW DLDVRGNHRG LWRLFRKKNH FLMVGVPASP YSPGSESNLF IDCPEGLENR PNLEGLDFFL GWNAALRVGL ALTQETAVPN PWTGPAGAHM LTQTHSETLR HWTRPPLSLL FVQISKAG
Genular Protein ID: 1544320144
Symbol: B7Z7Q4_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 638
- Mass: 72447
- Checksum: 6B9D4E06B80E7116
- Sequence:
MEGTKEIKVS NRRIQEHWTG AVLFLLVTVI VNIKLILDTR RAISEANEDP EPEQDYDEAL GRLEPPRRRG SGPRRVLDVE VYSSRSKVYV AVDGTTVLED EAREQGRGIH VIVLNQATGH VMAKRVFDTY SPHEDEAMVL FLNMVAPGRV LICTVKDEGS FHLKDTAKAL LRSLGSQAGP ALGWRDTWAF VGRKGGPVFG EKHSKSPALS SWGDPVLLKT DVPLSSAEEA ECHWADTELN RRRRRFCSKV EGYGSVCSCK DPTPIEFSPD PLPDNKVLNV PVAVIAGNRP NYLYRMLRSL LSAQGVSPQM ITVFIDGYYE EPMDVVALFG LRGIQHTPIS IKNARVSQHY KASLTATFNL FPEAKFAVVL EEDLDIAVDF FSFLSQSIHL LEEDDSLYCI SAWNDQGYEH TAEDPALLYR VETMPGLGWV LRRSLYKEEL EPKWPTPEKL WDWDMWMRMP EQRRGRECII PDVSRSYHFG IVGLNMNGYF HEAYFKKHKF NTVPGVQLRN VDSLKKEAYE VEVHRLLSEA EVLDHSKNPC EDSFLPDTEG HTYVAFIRME KDDDFTTWTQ LAKCLHIWDL DVRGNHRGLW RLFRKKNHFL VVGVPASPYS VKKPPSVTPI FLEPPPKEEG APGAPEQT
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.