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Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1)

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GnTI.2; MEB; MGAT1.2; UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2

Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1)
CCC H340
HGNC 19139
MGI 1915523
PubMed 18195152
RGD 1359396
UniProt Q8WZA1
Wiki POMGNT1
The POMGNT1 gene encodes a 660-amino acid type II transmembrane protein, with the region from phe38 to ile58 constituting a putative transmembrane domain. Northern blot analysis detected a 2.7-kb transcript in all 23 normal tissues tested, indicating that human POMGNT1 is constitutively expressed. An additional weaker 3.4-kb band was observed in spinal cord, lymph node, and trachea, suggesting the presence of 2 transcriptional initiation sites or alternative splicing in these tissues.The human and mouse proteins share 99% identity over 620 residues. Northern blot analysis revealed wide expression of a 3.3-kb transcript.GNTI.2 is specific for alpha-linked terminal Man and does not have MGAT3, MGAT4, MGAT5, MGAT7, or MGAT8 activity.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Protein O-Linked Mannose Beta-1,2-N-Acetylglucosaminyltransferase (POMGNT1) ELISA Kit Customized Service Offer
  1. "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1."Dev. Cell 1:717-724(2001) [PubMed] [Europe PMC] [Abstract]
  2. "Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease." Hum. Mol. Genet. 12:527-534(2003) [PubMed] [Europe PMC] [Abstract]
  3. "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "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."Biochem. J. 361:153-162(2002) [PubMed] [Europe PMC] [Abstract]
  8. "Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry."Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract]
  9. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  10. "Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease."Biochem. Biophys. Res. Commun. 306:93-97(2003) [PubMed] [Europe PMC] [Abstract]
  11. "Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1."Biochem. Biophys. Res. Commun. 320:39-44(2004) [PubMed] [Europe PMC] [Abstract]
  12. "POMGnT1 gene alterations in a family with neurological abnormalities."Ann. Neurol. 56:143-148(2004) [PubMed] [Europe PMC] [Abstract]
  13. "POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease."J. Med. Genet. 41:E115-E115(2004) [PubMed] [Europe PMC] [Abstract]
  14. "POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum."Arch. Neurol. 63:1491-1495(2006) [PubMed] [Europe PMC] [Abstract]
  15. "Brain involvement in muscular dystrophies with defective dystroglycan glycosylation." Ann. Neurol. 64:573-582(2008) [PubMed] [Europe PMC] [Abstract]
  16. "Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant."Arch. Neurol. 65:137-141(2008) [PubMed] [Europe PMC] [Abstract]
  17. "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study." Neurology 72:1802-1809(2009) [PubMed] [Europe PMC] [Abstract]