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N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab)

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GNPTA; UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab)
CCC J003
HGNC 29670
MGI 3643902
PubMed 23566849
RGD 1564821
UniProt Q3T906
Wiki GNPTAB
GNPTab encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene. In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) CLIA Kit Customized Service Offer
n/a ELISA Kit for N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) CLIA Kit Customized Service Offer
n/a ELISA Kit for N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) CLIA Kit Customized Service Offer
n/a ELISA Kit for N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta (GNPTab) ELISA Kit Customized Service Offer
  1. "Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase."Nat. Med. 11:1109-1112(2005) [PubMed] [Europe PMC] [Abstract]
  2. "The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase are encoded by a single cDNA."J. Biol. Chem. 280:36141-36149(2005) [PubMed] [Europe PMC] [Abstract]
  3. ErratumJ. Biol. Chem. 280:42476-42476(2005)
  4. "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]
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract]
  7. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
  8. "Stealth proteins: in silico identification of a novel protein family rendering bacterial pathogens invisible to host immune defense."PLoS Comput. Biol. 1:492-499(2005) [PubMed] [Europe PMC] [Abstract]
  9. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase."J. Biol. Chem. 285:3360-3370(2010) [PubMed] [Europe PMC] [Abstract]
  11. "A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism."Science 333:87-90(2011) [PubMed] [Europe PMC] [Abstract]
  12. "Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing."Genomics 102:169-173(2013) [PubMed] [Europe PMC] [Abstract]
  13. "Mislocalization of phosphotransferase as a cause of mucolipidosis III alphabeta."Proc. Natl. Acad. Sci. U.S.A. 111:3532-3537(2014) [PubMed] [Europe PMC] [Abstract]
  14. "Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition."J. Biol. Chem. 290:3045-3056(2015) [PubMed] [Europe PMC] [Abstract]
  15. "Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype."Am. J. Med. Genet. A 137:235-240(2005) [PubMed] [Europe PMC] [Abstract]
  16. "Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-Hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta-subunits precursor gene."Am. J. Hum. Genet. 78:451-463(2006) [PubMed] [Europe PMC] [Abstract]
  17. "Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG."Hum. Mutat. 27:830-831(2006) [PubMed] [Europe PMC] [Abstract]
  18. "When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients."Mol. Genet. Metab. 88:359-363(2006) [PubMed] [Europe PMC] [Abstract]
  19. "DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion."Clin. Chim. Acta 376:250-252(2007) [PubMed] [Europe PMC] [Abstract]
  20. "Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III."Am. J. Med. Genet. A 149A:2753-2761(2009) [PubMed] [Europe PMC] [Abstract]
  21. "Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients."Hum. Mutat. 30:E956-E973(2009) [PubMed] [Europe PMC] [Abstract]
  22. "Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation."J. Hum. Genet. 54:145-151(2009) [PubMed] [Europe PMC] [Abstract]
  23. "Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands."J. Med. Genet. 47:38-48(2010) [PubMed] [Europe PMC] [Abstract]
  24. "Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering."N. Engl. J. Med. 362:677-685(2010) [PubMed] [Europe PMC] [Abstract]
  25. "Mucolipidosis type II alpha/beta with a homozygous missense mutation in the GNPTAB gene."Am. J. Med. Genet. A 158A:1225-1228(2012) [PubMed] [Europe PMC] [Abstract]
  26. "A novel intermediate mucolipidosis II/IIIalphabeta caused by GNPTAB mutation in the cytosolic N-terminal domain."Eur. J. Hum. Genet. 22:594-601(2014) [PubMed] [Europe PMC] [Abstract]
  27. "Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene."Gene 524:59-64(2013) [PubMed] [Europe PMC] [Abstract]
  28. "Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)."Hum. Mutat. 35:368-376(2014) [PubMed] [Europe PMC] [Abstract]
  29. "The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module."Proc. Natl. Acad. Sci. U.S.A. 110:10246-10251(2013) [PubMed] [Europe PMC] [Abstract]
  30. "Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders."Orphanet J. Rare Dis. 9:59-59(2014) [PubMed] [Europe PMC] [Abstract]
  31. "Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis."JIMD Rep. 15:123-132(2015) [PubMed] [Europe PMC] [Abstract]