GNPTG

Summary

Gene Symbol: GNPTG
Description: N-acetylglucosamine-1-phosphate transferase gamma subunit
Alias: C16orf27, GNPTAG, LP2537, RJD9, N-acetylglucosamine-1-phosphotransferase subunit gamma, UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma, glcNAc-1-phosphotransferase subunit gamma
Species: human

Top Publications

  1. pmc Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering
    Changsoo Kang
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA
    N Engl J Med 362:677-85. 2010
  2. pmc A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling
    Renata Voltolini Velho
    Gene Therapy Center, Experimental Research Center, Hospital de Clinicas de Porto Alegre, RS, Brazil Genetics and Molecular Biology Postgraduate Program, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
    Mol Genet Metab Rep 1:98-102. 2014
  3. pmc Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase
    Yi Qian
    Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 285:3360-70. 2010
  4. pmc A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering
    Tae Un Han
    National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA
    Neurobiol Dis 69:23-31. 2014
  5. doi Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma
    Emanuele Persichetti
    Dipartimento di Medicina Interna, Universita degli Studi di Perugia, Perugia, Italy
    Hum Mutat 30:978-84. 2009
  6. pmc Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population
    Huan Chen
    State Key Laboratory of Proteomics, Beijing Proteome Research Center, Beijing Institute of Radiation Medicine, Beijing, 102206, China
    BMC Genet 16:7. 2015
  7. pmc Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes
    M Hashim Raza
    Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, MD, USA
    Eur J Hum Genet 24:529-34. 2016
  8. doi Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex
    Raffaella De Pace
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Martinistrasse 52, Hamburg 20246, Germany
    Hum Mol Genet 24:6826-35. 2015
  9. doi Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations
    Renata Voltolini Velho
    Gene Therapy Center, Experimental Research Center, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil
    J Hum Genet 61:555-60. 2016
  10. pmc Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase
    Eline van Meel
    Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri, 63110, USA
    Hum Mutat 37:623-6. 2016

Scientific Experts

  • Huan Chen
  • Michael Hoelker
  • Thomas Braulke
  • Dennis T Drayna
  • Stephan Tiede
  • P Vogel
  • Sandra Pohl
  • Giovanni Luca Beretta
  • Engelbert J E G Bast
  • Graeme Wistow
  • Paula J Bice
  • Changsoo Kang
  • Renata Voltolini Velho
  • A Raas-Rothschild
  • M F Coutinho
  • M Encarnação
  • M Hashim Raza
  • Heather Flanagan-Steet
  • Eline van Meel
  • Eduardo Sainz
  • Danilo Moretti-Ferreira
  • Emily Paris
  • Nataniel Floriano Ludwig
  • Joanne Gutierrez
  • Taciane Alegra
  • Raffaella De Pace
  • Ursula Matte
  • Ida V D Schwartz
  • Tae Un Han
  • Shuang Liu
  • Jennifer Mundorff
  • Stuart Kornfeld
  • Sheikh Riazuddin
  • Yong Gao
  • Kasmintan A Schrader
  • M J Prata
  • Yi Qian
  • S Alves
  • Maryam Zarghooni
  • Emanuele Persichetti
  • R Bargal
  • Ruth Bargal
  • Kyung Hoon Paik
  • Ronald Webster
  • Nicole Ruas Guarany
  • Muhammad A R Basra
  • Fernanda Sperb-Ludwig
  • Chang Soo Kang
  • Joshua Parker
  • Naveeda Riaz
  • Courtney Matheny
  • Aaron Petrey
  • Rachel Rahn
  • Shaheen Khan
  • Carlos E F Domingues
  • Ho Ming Chow
  • Richard Steet
  • Allen Braun
  • Marisa Encarnação
  • Katrin Marschner
  • Weimin Zhang
  • John Park
  • Carlos F Domingues
  • M Zeigler
  • Yan Meng
  • Maria Luiza Saraiva-Pereira
  • Huiping Shi
  • Fernanda Sperb
  • Zhengqing Qiu
  • Xiaoping Luo
  • Kangjuan Yang
  • Paula J Waters
  • Gavin Ha
  • Torsten Nielsen
  • B Tappino
  • James Whelan
  • Alireza Heravi-Moussavi
  • L da Silva Santos
  • Juan Liu
  • Sohrab P Shah
  • O Artigalas
  • Steven Jm Jones
  • M Filocamo
  • Qing K Wang
  • Mugen Liu
  • Niki Boyd
  • Arusha Oloumi
  • Cheng Wang
  • Janine Senz
  • G K Cury

Detail Information

Publications38

  1. pmc Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering
    Changsoo Kang
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA
    N Engl J Med 362:677-85. 2010
    ..Genetic factors have been implicated in this disorder, and previous studies of stuttering have identified linkage to markers on chromosome 12...
  2. pmc A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling
    Renata Voltolini Velho
    Gene Therapy Center, Experimental Research Center, Hospital de Clinicas de Porto Alegre, RS, Brazil Genetics and Molecular Biology Postgraduate Program, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
    Mol Genet Metab Rep 1:98-102. 2014
    ..by the abnormal trafficking and subcellular localization of lysosomal enzymes due to mutations in the GNPTG gene...
  3. pmc Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase
    Yi Qian
    Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 285:3360-70. 2010
    ..We postulate that the mannose 6-phosphate receptor homology domain of the gamma subunit binds and presents the high mannose glycans of the acceptor to the alpha/beta catalytic site in a favorable manner...
  4. pmc A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering
    Tae Un Han
    National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA
    Neurobiol Dis 69:23-31. 2014
    ..This was compared to the distribution of variants in the GNPTAB, GNPTG, and NAGPA genes which have previously been associated with persistent stuttering...
  5. doi Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma
    Emanuele Persichetti
    Dipartimento di Medicina Interna, Universita degli Studi di Perugia, Perugia, Italy
    Hum Mutat 30:978-84. 2009
    ..a study of 10 patients from seven families with a clinical phenotype and enzymatic diagnosis of MLIII, six novel GNPTG gene mutations were identified. These included missense (p.T286M) and nonsense (p...
  6. pmc Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population
    Huan Chen
    State Key Laboratory of Proteomics, Beijing Proteome Research Center, Beijing Institute of Radiation Medicine, Beijing, 102206, China
    BMC Genet 16:7. 2015
    ..As previous study reported association of GNPTAB, GNPTG and NAGPA with stuttering, we investigated these genes with dyslexia through association analysis.
  7. pmc Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes
    M Hashim Raza
    Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, MD, USA
    Eur J Hum Genet 24:529-34. 2016
    Homozygous mutations in GNPTAB and GNPTG are classically associated with mucolipidosis II (ML II) alpha/beta and mucolipidosis III (ML III) alpha/beta/gamma, which are rare lysosomal storage disorders characterized by multiple ..
  8. doi Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex
    Raffaella De Pace
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Martinistrasse 52, Hamburg 20246, Germany
    Hum Mol Genet 24:6826-35. 2015
    ..GNPTAB and GNPTG encode the α/β-subunit precursor membrane proteins and the soluble γ-subunits, respectively...
  9. doi Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations
    Renata Voltolini Velho
    Gene Therapy Center, Experimental Research Center, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil
    J Hum Genet 61:555-60. 2016
    Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene...
  10. pmc Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase
    Eline van Meel
    Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri, 63110, USA
    Hum Mutat 37:623-6. 2016
    ..Several missense mutations in GNPTG, the gene encoding the γ subunit, have been reported in mucolipidosis III γ patients...
  11. pmc Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology
    Heather Flanagan-Steet
    Complex Carbohydrate Research Center, 315 Riverbend Road, University of Georgia, Athens, GA 30602, United States
    Biochim Biophys Acta 1860:1845-53. 2016
    ..This process is initiated by GlcNAc-1-phosphotransferase, a multi-subunit enzyme encoded by the GNPTAB and GNPTG genes...
  12. doi Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma
    Shuang Liu
    Department of Pediatrics, PUMC Hospital, CAMS and PUMC, Beijing 100730, PR China
    Gene 535:294-8. 2014
    Mucolipidosis type III gamma (MLIII gamma) is an autosomal recessive disease caused by a mutation in the GNPTG gene, which encodes the γ subunit of the N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase)...
  13. doi Molecular analysis of the GlcNac-1-phosphotransferase
    T Braulke
    Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    J Inherit Metab Dis 31:253-7. 2008
    ..The recent identification of two genes, GNPTAB and GNPTG, encoding the three subunits of GlcNac-1-phosphotransferase leads to an improvement of both pre- and postnatal ..
  14. ncbi A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site
    Stephan Tiede
    Department of Biochemistry, Children s Hospital, Hamburg, Germany
    Hum Mutat 24:535. 2004
    ..The gene encoding the gamma-subunit (GNPTAG) appears to be defective in patients with mucolipidosis type III (ML III)...
  15. pmc Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III
    A Raas-Rothschild
    Department of Human Genetics, Hadassah University Medical Center, Jerusalem, Israel
    J Med Genet 41:e52. 2004
  16. pmc A role for inherited metabolic deficits in persistent developmental stuttering
    Changsoo Kang
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 107:276-80. 2012
    ..first variant genes to be associated with stuttering are those encoding the lysosomal targeting system, GNPTAB, GNPTG, and NAGPA...
  17. doi Transcriptional response of the bovine endometrium and embryo to endometrial polymorphonuclear neutrophil infiltration as an indicator of subclinical inflammation of the uterine environment
    Michael Hoelker
    Insititute of Animal Science, Animal Breeding and Husbandry Group, University of Bonn, Endenicher Allee 15, 53115 Bonn, Germany
    Reprod Fertil Dev 24:778-93. 2012
    ..Similarly, 11 transcripts were found to be differentially regulated on Day 7. Of these, GNPTG, BOLA-DQA5, CHD2, LOC541226, VCAM1 and ARHGEF2 were found to be downregulated, whereas PSTPIP2, BT236441 and ..
  18. ncbi [Stuttering: effects of genes and early treatment]
    Engelbert J E G Bast
    Nederlandse Federatie Stotteren, Utrecht, The Netherlands
    Ned Tijdschr Geneeskd 155:A3514. 2011
    ..The mutated genes found are GNPTAB, GNPTG and NAGPA. They are involved in lysosomal decomposition...
  19. pmc Genetic approaches to understanding the causes of stuttering
    Dennis Drayna
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Room 2B 46, Rockville, MD, 20850, USA
    J Neurodev Disord 3:374-80. 2011
    ..Subsequent studies identified mutations in the functionally related GNPTG and NAGPA genes...
  20. doi Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities
    Kasmintan A Schrader
    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada
    J Pathol 225:12-8. 2011
    ..with spondylo-epiphyseal dysplasia and retinitis pigmentosa and identified a six-base-pair (6-bp) deletion in GNPTG, the gene implicated in mucolipidosis type IIIγ...
  21. doi Genetics of speech and language disorders
    Changsoo Kang
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland 20892, USA
    Annu Rev Genomics Hum Genet 12:145-64. 2011
    ..approaches in consanguineous families identified mutations in the lysosomal enzyme-targeting pathway genes GNPTAB, GNPTG, and NAGPA, revealing a role for inherited defects in cell metabolism in this disorder...
  22. doi Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma
    Yong Gao
    Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, China
    Mol Genet Metab 102:107-9. 2011
    ..In a Chinese family with three siblings, linkage analysis revealed positive linkage of the family to GNPTG. Direct DNA sequence analysis identified two novel compound heterozygous mutations, c...
  23. doi Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity
    M F Coutinho
    Medical Genetics Center Jacinto Magalhães, Research and Development Unit, Department of Genetics, INSA, Portugal
    Clin Genet 80:273-80. 2011
    ..GlcNAc-phosphotransferase is a multimeric enzyme encoded by two genes, GNPTAB and GNPTG. A spectrum of mutations in GNPTAB has been recently reported to cause ML II alpha/beta...
  24. doi Fine mapping and expression of candidate genes within the chromosome 10 QTL region of the high and low alcohol-drinking rats
    Paula J Bice
    Department of Medicine, Indiana University School of Medicine, Medical Research and Library Building, Indianapolis, IN 46202, USA
    Alcohol 44:477-85. 2010
    ..Quantitative real-time PCR was used to examine mRNA expression of six candidate genes (Crebbp, Trap1, Gnptg, Clcn7, Fahd1, and Mapk8ip3) located within the narrowed QTL region in the HAD1/LAD1 rats...
  25. pmc Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation
    Y Ben-Yoseph
    Biochem J 235:883-6. 1986
    ..The values for the fibroblast enzymes were about 20% higher, 283 +/- 27 kDa and 156 +/- 14 kDa for the transferase and phosphodiesterase respectively. Triton X-100 had no effect on the molecular size of these enzymes...
  26. doi Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics
    Sandra Pohl
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Am J Med Genet A 152:124-32. 2010
    ..Direct sequencing identified a novel homozygous mutation in intron 7, IVS7-10G>A, of the GNPTG gene, which encodes the gamma-subunit of the GlcNAc-1-phosphotransferase...
  27. doi Increased levels and defective glycosylation of MRPs in ovarian carcinoma cells resistant to oxaliplatin
    Giovanni Luca Beretta
    Department of Experimental Oncology and Molecular Medicine, Fondazione IRCSS Istituto Nazionale Tumori, Milan, Italy
    Biochem Pharmacol 79:1108-17. 2010
    ..defect of oxaliplatin-resistant cells was linked to reduced levels of N-acetylglucosamine-1-phosphotransferase (GNPTG) and mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5)...
  28. doi Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III
    Maryam Zarghooni
    Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 149:2753-61. 2009
    Mucolipidosis II and III are autosomal recessive disorders due to mutations in the GNPTAB and GNPTG genes encoding the alphabeta- and gamma-subunits of the GlcNAc-1-phosphotransferase, respectively...
  29. doi Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma
    Sandra Pohl
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf Martinistrasse 52, Building N27, 20246 Hamburg, Germany
    Biochim Biophys Acta 1792:221-5. 2009
    ..beta-subunits are catalytically active and encoded by a single gene, GNPTAB, whereas the gamma-subunit encoded by GNPTG is proposed to recognize conformational structures common to lysosomal enzymes...
  30. doi Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations
    M Encarnação
    National Health Institute Dr Ricardo Jorge, Center of Medical Genetics Dr Jacinto Magalhães, 4099 028 Porto, Portugal
    Clin Genet 76:76-84. 2009
    ..transmembrane enzyme composed of three subunits (alpha, beta and gamma) encoded by two genes -GNPTAB and GNPTG. Defects in GNPTAB result in ML II and III whereas mutations in GNPTG were only found in ML III patients...
  31. pmc Comparative pathology of murine mucolipidosis types II and IIIC
    P Vogel
    Lexicon Pharmaceuticals, Pathology Department, 8800 Technology Forest Place, The Woodlands, TX 77381 1160, USA
    Vet Pathol 46:313-24. 2009
    ..alterations in secretory cells of several exocrine glands; however, lesions in gamma-subunit deficient (Gnptg(-/-)) mice were milder and more restricted in distribution than in alpha/beta-subunit deficient (Gnptab(-/-)) mice...
  32. ncbi 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
    Stephan Tiede
    Department of Biochemistry, Children s Hospital, University Hospital Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 27:830-1. 2006
    ..Phosphotransferase deficiency is caused by mutations in GNPTA and GNPTG encoding phosphotransferase subunits...
  33. ncbi When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients
    Ruth Bargal
    Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Mol Genet Metab 88:359-63. 2006
    ..by the GNPTA gene is the catalytic subunit of the enzyme while the gamma recognition subunit is encoded by the GNPTAG gene. We report the molecular analysis of GNPTA in 21 families with ML II and 3 families with ML III...
  34. ncbi Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA
    Kyung Hoon Paik
    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gang Nam Gu, Seoul, 135 710, Korea
    Hum Mutat 26:308-14. 2005
    ..mutations in the GNPTA (MGC4170) gene, which codes for the alpha/beta subunits of phosphotransferase, and in the GNPTAG gene, which codes for its gamma subunits in five Korean patients with mucolipidosis type II or IIIA...
  35. ncbi Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype
    Stephan Tiede
    Department of Biochemistry, Children s Hospital, University Hospital Hamburg Eppendorf, Hamburg, Germany
    Am J Med Genet A 137:235-40. 2005
    ..Mutations in the phosphotransferase gamma subunit gene (GNPTAG) have been reported to be responsible for ML III...
  36. pmc Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)
    A Raas-Rothschild
    Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem 91120, Israel
    J Clin Invest 105:673-81. 2000
    ..This is to our knowledge the first description of the molecular basis for a human mucolipidosis and suggests that the gamma subunit functions in lysosomal hydrolase recognition...
  37. ncbi Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities with retinal pigment epithelium
    Graeme Wistow
    Section on Molecular Structure and Function, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 2740, USA
    Mol Vis 8:185-95. 2002
    ..Expressed sequence tag (EST) analysis of human iris has been performed to explore the repertoire of genes expressed in this tissue...

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