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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GNPTG Gene

protein-coding   GIFtS: 51
GCID: GC16P001401

N-acetylglucosamine-1-phosphate transferase, gamma subunit

(Previous names: N-acetylglucosamine-1-phosphotransferase, gamma subunit,...)
(Previous symbols: GNPTAG, C16orf27)
 Explore 12 diseases affiliated with
GNPTG via our new
 Human Malady Compendium 
Biological research products
for GNPTG
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
N-Acetylglucosamine-1-Phosphate Transferase, Gamma Subunit1 2     C316G12.31
GNPTAG1 2 3 5     Chromosome 16 Open Reading Frame 271
C16orf271 2 3     N-Acetylglucosamine-1-Phosphotransferase, Gamma Subunit1
GlcNAc-1-Phosphotransferase Subunit Gamma2 3     LP25372
UDP-N-Acetylglucosamine-1-Phosphotransferase Subunit Gamma2 3     RJD92
CAB561841     N-Acetylglucosamine-1-Phosphotransferase Subunit Gamma2

External Ids:    HGNC: 230261   Entrez Gene: 845722   Ensembl: ENSG000000905817   OMIM: 6078385   UniProtKB: Q9UJJ93   

Export aliases for GNPTG gene to outside databases

Previous GC identifers: GC16P001342 GC16P001343


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GNPTG:
This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex,
composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal
recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations
in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III
gamma.(provided by RefSeq, Feb 2010)

UniProtKB/Swiss-Prot: GNPTG_HUMAN, Q9UJJ9
Function: May recognize the substrate of GlcNAc-1-phosphotransferase but also the lysosomal proteins with
mannose-6-phosphate residues




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GNPTG gene promoter:
         AREB6   HEN1   NF-1   MIF-1   Nkx2-5   LCR-F1   E47   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNPTG promoter sequence
   Search SABiosciences Chromatin IP Primers for GNPTG

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GNPTG


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

GNPTG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNPTG gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P001401:  view genomic region     (about GC identifiers)

Start:
1,401,900 bp from pter      End:
1,413,352 bp from pter
Size:
11,453 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GNPTG_HUMAN, Q9UJJ9 (See protein sequence)
Recommended Name: N-acetylglucosamine-1-phosphotransferase subunit gamma precursor  
Size: 305 amino acids; 33974 Da
Subunit: Hexamer of two alpha, two beta and two gamma subunit; disulfide-linked. It is believed that the alpha and/or
the beta subunit of the enzyme contain the catalytic portion and that the gamma subunit functions in recognition of
the lysosomal enzymes
Subcellular location: Secreted (By similarity). Golgi apparatus (By similarity)
Sequence caution: Sequence=AAP34456.1; Type=Erroneous initiation;
Secondary accessions: B2R556 Q6XYD7 Q96L13

Explore the universe of human proteins at neXtProt for GNPTG: NX_Q9UJJ9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UJJ9

  • GNPTG Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_115909.1  
    ENSEMBL proteins: 
     ENSP00000204679   ENSP00000434413   ENSP00000460728   ENSP00000435349  

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    Novus Biologicals GNPTG Protein
    Novus Biologicals GNPTG Lysates
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005794Golgi apparatus IEA--


    GNPTG for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GNPTG for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009011 Man6P_isomerase_rcpt-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9UJJ9

    ProtoNet protein and cluster: Q9UJJ9

    1 Blocks protein family: IPB012913 Glucosidase II beta subunit-like

    UniProtKB/Swiss-Prot: GNPTG_HUMAN, Q9UJJ9
    Similarity: Contains 1 PRKCSH domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: GNPTG_HUMAN, Q9UJJ9
    Function: May recognize the substrate of GlcNAc-1-phosphotransferase but also the lysosomal proteins with
    mannose-6-phosphate residues

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate GNPTG:
    hsa-miR-374a* hsa-miR-299-5p hsa-miR-625* hsa-miR-1179 hsa-miR-491-3p hsa-miR-106a* hsa-miR-490-5p
    SwitchGear 3'UTR luciferase reporter plasmidGNPTG 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: GNPTG
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNPTG

    Animal Models:
         Mouse knock-out Gnptgtm1Lex for GNPTG
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Gnptg):
     cellular 

    GNPTG for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lysosome
    Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for GNPTG):
        Lysosome


    GNPTG for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GNPTG

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for GNPTG (Q9UJJ93 ENSP000002046794) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF1Q929003, ENSP000002628034I2D: score=2 STRING: ENSP00000262803
    GNPTABQ3T9063, ENSP000002993144I2D: score=1 STRING: ENSP00000299314
    EFEMP2O959673I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GNPTG for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GNPTG
    2 Novoseek chemical compound relationships for GNPTG gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 87.2 1 15532026 (1)
    n-acetylglucosamine 50.9 1 16835905 (1)

    Search CenterWatch for drugs/clinical trials and news about GNPTG 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GNPTG gene: 
    NM_032520.4  

    Unigene Cluster for GNPTG:

    N-acetylglucosamine-1-phosphate transferase, gamma subunit
    Hs.241575  [show with all ESTs]
    Unigene Representative Sequence: AK126110
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000204679(uc002clm.3) ENST00000526820 ENST00000527876 ENST00000529957
    ENST00000534197 ENST00000527137 ENST00000527168 ENST00000529110 ENST00000527076


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GNPTG
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate GNPTG:
    hsa-miR-374a* hsa-miR-299-5p hsa-miR-625* hsa-miR-1179 hsa-miR-491-3p hsa-miR-106a* hsa-miR-490-5p
    SwitchGear 3'UTR luciferase reporter plasmidGNPTG 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GNPTG

    Additional cDNA sequence: 

    AF302786.1 AK126110.1 AK312067.1 AY203933.1 BC014592.1 BC131525.1 

    10 DOTS entries:

    DT.100798639  DT.316570  DT.101979057  DT.95321776  DT.91772592  DT.100730054  DT.120662122  DT.95108105 
    DT.97778974  DT.120662091 

    24/248 AceView cDNA sequences (see all 248):

    AI244946 AW466885 BI751989 CR597542 CN482545 BU741061 AI141309 BF222389 
    CA440295 BM969090 AI810996 AI224610 BM680459 CR618970 CA417819 AL047844 
    BM704576 AI797790 AA993626 AA917939 BM424068 AI309547 BI870030 CD108929 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GNPTG (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                -     -     -     -     -                                   -                           
    SP2:                                -     -     -     -     -     -                             -                           
    SP3:                                -     -     -     -     -                                                               
    SP4:                                -     -     -     -     -     -                                                         
    SP5:                                -                                                                                       


    ECgene alternative splicing isoforms for GNPTG

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GNPTG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATTCTGTAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See GNPTG Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GNPTG

    SOURCE GeneReport for Unigene cluster: Hs.241575

    UniProtKB/Swiss-Prot: GNPTG_HUMAN, Q9UJJ9
    Tissue specificity: Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Array including GNPTG: 
              Glycosylation in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNPTG

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GNPTG gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnptg1 , 5 N-acetylglucosamine-1-phosphotransferase, gamma subunit1, 5 81.09(n)1
    79.02(a)1
      17 (12.53 cM)5
    2145051  NM_172529.31  NP_766117.21 
     252343175 
    chicken
    (Gallus gallus)
    Aves GNPTG1 N-acetylglucosamine-1-phosphate transferase, gamma more 64.52(n)
    66.44(a)
      416591  XM_414891.3  XP_414891.1 
    lizard
    (Anolis carolinensis)
    Reptilia GNPTG6
    --
    58(a)
    1 ↔ 1
    GL343612.1(266248-277322)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.154342 Xenopus laevis transcribed sequence with moderate similarity more 75.38(n)    BX842736.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc67g112 Transcribed sequence with weak similarity to protein more 72.16(n)    BM102925.1 


    ENSEMBL Gene Tree for GNPTG (if available)
    TreeFam Gene Tree for GNPTG (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/291 NCBI SNPs in GNPTG are shown (see all 291    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1933028601,2
    Cpathogenic3906606(+) CGAGAC/TGCCCA 2 T M mis10--------
    rs1378528841,2
    Cpathogenic3907583(+) GAGTGA/GGAGAT 2 * W stg10--------
    rs1378528851,2
    Cpathogenic3907682(+) TCCTCA/GGGTGA 2 S G mis10--------
    rs1112671961,2
    F--1328626(+) AGGTCC/TGGAAA 1 -- us2k12Minor allele frequency- T:0.50CSA 4
    rs783394011,2
    C,F,--1328942(+) GAGGAT/GTCTCT 1 -- us2k11Minor allele frequency- G:0.08WA 118
    rs1132969941,2
    --1328985(+) CACACG/ACCGGC 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1113542671,2
    F--1329523(+) CAAACG/AGACTT 1 -- us2k11Minor allele frequency- A:0.50CSA 6
    rs609378661,2
    C,F,--1329585(+) TTCACT/CCAACA 1 -- us2k14Minor allele frequency- C:0.15WA CSA NA 242
    rs285417131,2
    --1330243(+) CACGGC/GCGCGC 1 -- us2k10--------
    rs286542391,2
    --1330293(+) GCGCCC/GGACGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GNPTG (1401900 - 1413352 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for GNPTG
         3 CNVs: 29991 5329 4779
    Human Gene Mutation Database (HGMD): GNPTG

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GNPTG
    DNA2.0 Custom Variant and Variant Library Synthesis for GNPTG

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GNPTG for disorders           About GeneDecksing

    OMIM gene information: 607838   
    OMIM disorders: 252605  
    UniProtKB/Swiss-Prot: GNPTG_HUMAN, Q9UJJ9
  • Defects in GNPTG are the cause of mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]; also
  • known as variant pseudo-Hurler polydystrophy. MLIIIC is an autosomal recessive disease of lysosomal hydrolase
    trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC
    (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal
    hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis,
    short stature, coarse facies, and mild mental retardation. Radiographically, severe dysostosis multiplex of the hip is
    characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal
    enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts

    12 diseases for GNPTG:    About MalaCards
    mucolipidosis iiic    mucolipidosis iii gamma    mucolipidosis    mucolipidosis ii
    short stature    autosomal recessive disease    dysostosis    scoliosis
    parkinson's disease    ovarian carcinoma    retinitis    carcinoma

    2 diseases from the University of Copenhagen DISEASES database for GNPTG:
    Mucolipidosis     Speech disorder

    2 Novoseek disease relationships for GNPTG gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mucolipidosis iii 98.5 11 15532026 (2), 20034096 (1), 15060128 (1), 19370764 (1)
    i-cell disease 94.5 6 19659762 (2), 16116615 (2), 16835905 (1), 19938078 (1)


    Export disorders for GNPTG gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GNPTG gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with GNPTG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC). (PubMed id 10712439)1, 2, 3 Raas-Rothschild A....Canfield W.M. (2000)
    2. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
    3. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subun it (GNPTG) gene in patients with mucolipidosis III gamma. (PubMed id 19370764)1, 9 Persichetti E....Beccari T. (2009)
    6. Molecular analysis of the GNPTAB and GNPTG genes in 1 3 patients with mucolipidosis type II or type III - identification of eight nov el mutations. (PubMed id 19659762)1, 9 EncarnaAsALo M....Alves S. (2009)
    7. Loss of N-acetylglucosamine-1-phosphotransferase gamm a subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma : Implications for molecular and cellular diagnostics. (PubMed id 20034096)1, 9 Pohl S....Braulke T. (2010)
    8. Mutations in the lysosomal enzyme-targeting pathway a nd persistent stuttering. (PubMed id 20147709)1, 9 Kang C....Drayna D. (2010)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma. (PubMed id 20951619)1 Gao Y....Liu J.Y. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84572 HGNC: 23026 AceView: GNPTG Ensembl:ENSG00000090581 euGenes: HUgn84572
    ECgene: GNPTG Kegg: 84572 H-InvDB: GNPTG

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GNPTG Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GNPTG gene:
    Search GeneIP for patents involving GNPTG

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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