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

GNPTAB Gene

protein-coding   GIFtS: 56
GCID: GC12M102139

N-Acetylglucosamine-1-Phosphate Transferase, Alpha And Beta...


(Previous symbol: GNPTA)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
N-Acetylglucosamine-1-Phosphate Transferase, Alpha And Beta
Subunits1 2
     GlcNAc Phosphotransferase2
GNPTA1 2 3 5     Glucosamine (UDP-N-Acetyl)-Lysosomal-Enzyme N-Acetylglucosamine
Phosphotransferase2
GlcNAc-1-Phosphotransferase Subunits Alpha/Beta2 3     N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta2
Stealth Protein GNPTAB2 3     UDP-N-Acetylglucosamine-Lysosomal-Enzyme N-Acetylglucosamine2
UDP-N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta2 3     EC 2.7.8.173
ICD2     KIAA12083

External Ids:    HGNC: 296701   Entrez Gene: 791582   Ensembl: ENSG000001116707   OMIM: 6078405   UniProtKB: Q3T9063   

Export aliases for GNPTAB gene to outside databases

Previous GC identifers: GC12M100642 GC12M100663 GC12M099198


(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 GNPTAB Gene:
This gene 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 (GeneID 84572). 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.(provided by RefSeq, May 2010)

GeneCards Summary for GNPTAB Gene: 
GNPTAB (N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits) is a protein-coding gene. Diseases associated with GNPTAB include mucolipidosis ii, and mucolipidosis iii alpha/beta. GO annotations related to this gene include UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity and transcription factor binding.

UniProtKB/Swiss-Prot: GNPTA_HUMAN, Q3T906
Function: Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in
the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular
transport of lysosomal enzymes to the endosomal/prelysosomal compartment




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GNPTAB gene promoter:
         Egr-3   c-Fos   SRF   Spz1   AP-1   p53   SRF (504 AA)   SEF-1 (1)   IRF-7A   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNPTAB promoter sequence
   Search SABiosciences Chromatin IP Primers for GNPTAB

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


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

Entrez Gene cytogenetic band: 12q23.2   Ensembl cytogenetic band:  12q23.2   HGNC cytogenetic band: 12q23.3

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M102139:  view genomic region     (about GC identifiers)

Start:
102,139,275 bp from pter      End:
102,224,716 bp from pter
Size:
85,442 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GNPTA_HUMAN, Q3T906 (See protein sequence)
Recommended Name: N-acetylglucosamine-1-phosphotransferase subunits alpha/beta precursor  
Size: 1256 amino acids; 143622 Da
Subunit: Hexamer of two alpha, two beta and two gamma subunits; 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 (By similarity)
Subcellular location: N-acetylglucosamine-1-phosphotransferase subunit alpha: Golgi apparatus membrane;
Single-pass type I membrane protein
Subcellular location: N-acetylglucosamine-1-phosphotransferase subunit beta: Golgi apparatus membrane; Single-pass
type II membrane protein
Miscellaneous: Due to the low pH in the endosomal/prelysosomal compartment, the lysosomal enzyme-MPR complex
dissociates and then the enzyme is delivered to the lysosome. Between 5% and 20% of newly synthesized lysosomal
enzymes escape the binding to the MPR in the Golgi apparatus and are secreted
Miscellaneous: Stealth proteins are part of a protein family that is conserved from bacteria to higher eukaryotes.
Family members were first identified in microbes as proteins that help pathogens to elude the host innate immune
system. Microbial stealth proteins are most likely involved in the biosynthesis of exopolysaccharides. Stealth
proteins are predicted to function as hexose-1-phosphoryltransferases
Secondary accessions: A2RRQ9 Q3ZQK2 Q6IPW5 Q86TQ2 Q96N13 Q9ULL2
Alternative splicing: 2 isoforms:  Q3T906-1   Q3T906-2   

Explore the universe of human proteins at neXtProt for GNPTAB: NX_Q3T906

Explore proteomics data for GNPTAB at MOPED 

Post-translational modifications:

  • UniProtKB: The alpha- and beta-subunits appear to be generated by a proteolytic cleavage at the Lys-928-Asp-929 bond
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q3T906

  • GNPTAB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GNPTAB Protein Expression
    REFSEQ proteins: NP_077288.2  
    ENSEMBL proteins: 
     ENSP00000299314   ENSP00000450161   ENSP00000449557   ENSP00000449150   ENSP00000449217  
     ENSP00000376651   ENSP00000450413  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005634nucleus IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    GNPTAB for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    5 InterPro protein domains:
     IPR010506 DMAP1-bd
     IPR002048 EF_hand_dom
     IPR021520 DUF3184
     IPR018247 EF_Hand_1_Ca_BS
     IPR000800 Notch_dom

    Graphical View of Domain Structure for InterPro Entry Q3T906

    ProtoNet protein and cluster: Q3T906

    UniProtKB/Swiss-Prot: GNPTA_HUMAN, Q3T906
    Similarity: Belongs to the stealth family
    Similarity: Contains 1 EF-hand domain
    Similarity: Contains 2 LNR (Lin/Notch) repeats


    GNPTAB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GNPTA_HUMAN, Q3T906
    Function: Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in
    the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular
    transport of lysosomal enzymes to the endosomal/prelysosomal compartment
    Catalytic activity: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose = UMP + lysosomal-enzyme
    N-acetyl-D-glucosaminyl-phospho-D-mannose

         Enzyme Number (IUBMB): EC 2.7.8.171

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003976UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0008134transcription factor binding IEA--
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
         
    GNPTAB for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gnptab):
     cellular  digestive/alimentary  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     nervous system  reproductive system  skeleton  vision/eye 

    GNPTAB for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GNPTAB 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNPTAB 
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    SwitchGear 3'UTR luciferase reporter plasmidGNPTAB 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GNPTAB About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for GNPTAB):
        Lysosome


    GNPTAB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GNPTAB

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for GNPTAB (Q3T9063 ENSP000002993144) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DISC1Q9NRI53, ENSP000003555964I2D: score=2 STRING: ENSP00000355596
    GNPTGQ9UJJ93, ENSP000002046794I2D: score=1 STRING: ENSP00000204679
    MAPK1ENSP000002158324STRING: ENSP00000215832
    --ENSP000003936424STRING: ENSP00000393642
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009306protein secretion IEA--
    GO:0030154cell differentiation IEA--
    GO:0046835carbohydrate phosphorylation IEA--

    GNPTAB for ontologies           About GeneDecksing



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

    GNPTAB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GNPTAB (GNPTA)

    3 HMDB Compounds for GNPTAB    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-MannoseDL-mannose (see all 13)3458-28-4--
    Uridine 5'-monophosphate5'-UMP (see all 12)58-97-9--
    Uridine diphosphate-N-acetylglucosamineN-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide (see all 30)528-04-1--

    5 Novoseek inferred chemical compound relationships for GNPTAB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    udp-n-acetylglucosamine 88.1 5 8826001 (1), 19659762 (1), 16120602 (1), 16465621 (1) (see all 5)
    mannose 6-phosphate 87.9 4 1648948 (1), 17927214 (1), 8294420 (1), 7786023 (1)
    phosphodiester 58.8 4 8294420 (2), 1648948 (1), 7786023 (1)
    mannose 53.7 2 15997205 (2)
    n-acetylglucosamine 53.4 2 7786023 (1), 16835905 (1)

    Search CenterWatch for drugs/clinical trials and news about GNPTAB / GNPTA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GNPTAB gene: 
    NM_024312.4  

    Unigene Cluster for GNPTAB:

    N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
    Hs.46850  [show with all ESTs]
    Unigene Representative Sequence: NM_024312
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299314(uc001tit.3) ENST00000549738 ENST00000550718 ENST00000549194
    ENST00000552009 ENST00000549940(uc001tiu.2) ENST00000552681(uc001tiv.4)
    ENST00000550352 ENST00000392919(uc001tiw.3) ENST00000549165
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/51 QIAGEN miScript miRNA Assays for microRNAs that regulate GNPTAB (see all 51):
    hsa-miR-194* hsa-miR-548j hsa-miR-607 hsa-miR-4328 hsa-let-7d hsa-miR-199a-3p hsa-miR-16-1* hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidGNPTAB 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB033034.2 AK001821.1 AK056137.1 AL359588.1 AL832172.1 AM085438.1 AY687932.1 BC002779.2 
    BC042615.1 BC071687.1 BC094884.1 BC131787.1 CR749871.1 

    19 DOTS entries:

    DT.75100228  DT.65284189  DT.97795640  DT.40112571  DT.97791945  DT.100041785  DT.425725  DT.65286000 
    DT.91749800  DT.92415533  DT.95368467  DT.97823231  DT.100025093  DT.100781531  DT.121194349  DT.75100362 
    DT.91749803  DT.95368465  DT.40249857 

    24/146 AceView cDNA sequences (see all 146):

    BU171738 D62797 AI814829 AW025929 BM544697 AW139658 AL359588 CK826012 
    AI247548 N35222 CD722894 BG291336 BQ008614 BC042615 BU787488 AB033034 
    BQ720582 AI635336 AW515396 AW136265 AI825735 NM_024312 BM768464 BQ719691 

    GeneLoc Exon Structure


    (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

    GNPTAB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTCAACAA
    GNPTAB Expression
    About this image


    See GNPTAB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GNPTAB

    SOURCE GeneReport for Unigene cluster: Hs.46850

    UniProtKB/Swiss-Prot: GNPTA_HUMAN, Q3T906
    Tissue specificity: Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and
    pancreas

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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNPTAB

    (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 animals.

    Orthologs for GNPTAB gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnptab1 , 5 N-acetylglucosamine-1-phosphate transferase, alpha more1, 5 84.72(n)1
    87.69(a)1
      10 (43.86 cM)5
    4324861  NM_001004164.21  NP_001004164.21 
     883791325 
    chicken
    (Gallus gallus)
    Aves GNPTAB1 N-acetylglucosamine-1-phosphate transferase, alpha more 75.65(n)
    78.69(a)
      418096  XM_416329.3  XP_416329.2 
    lizard
    (Anolis carolinensis)
    Reptilia GNPTAB6
    N-acetylglucosamine-1-phosphate transferase, alpha...
    75(a)
    1 ↔ 1
    5(17380585-17437607)
    zebrafish
    (Danio rerio)
    Actinopterygii gnptab1 N-acetylglucosamine-1-phosphate transferase, alpha more 65.87(n)
    66.86(a)
      553365  NM_001044768.3  NP_001038233.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG80276
    --
    34(a)
    1 ↔ 1
    2R(5091913-5094626)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GNPTAB gene
    18/36 SIMAP similar genes for GNPTAB using alignment to 7 protein entries:     GNPTA_HUMAN (see all proteins) (see all similar genes):
    DKFZp762B226    SUN3    LGALS3    NSRP1    NPAT    GRIK2
    UTY    C12orf23    CNOT2    ZNF23    DAW1    FANCA
    FAM3A    MKRN1    PSD3    ZNF83    FAM221A    LAMA5

    GNPTAB for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GNPTAB
    PGOHUM00000247576


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/2032 SNPs in GNPTAB are shown (see all 2032)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0628124
    Mucolipidosis type III complementation group A (MLIIIA)4--see VAR_0628122 Q P mis40--------
    VAR_0275114
    Mucolipidosis type II (MLII)4--see VAR_0275112 K M mis40--------
    VAR_0628134
    Mucolipidosis type III complementation group A (MLIIIA)4--see VAR_0628132 H Y mis40--------
    VAR_0254164
    Mucolipidosis type III complementation group A (MLIIIA)4--see VAR_0254162 D A mis40--------
    VAR_0628144
    Mucolipidosis type II (MLII)4--see VAR_0628142 L P mis40--------
    VAR_0628094
    Mucolipidosis type III complementation group A (MLIIIA)4--see VAR_0628092 I T mis40--------
    VAR_0628084
    Mucolipidosis type III complementation group A (MLIIIA)4--see VAR_0628082 S F mis40--------
    VAR_0628114
    Mucolipidosis type III complementation group A (MLIIIA)4--see VAR_0628112 C G mis40--------
    VAR_0628074
    Mucolipidosis type III complementation group A (MLIIIA)4--see VAR_0628072 F L mis40--------
    VAR_0628154
    Mucolipidosis type III complementation group A (MLIIIA)4--see VAR_0628152 N S mis40--------

    HapMap Linkage Disequilibrium report for GNPTAB (102139275 - 102224716 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GNPTAB:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2615882CNV Insertion19546169
    nsv861CNV Insertion18451855
    nsv832497CNV Gain17160897


    Human Gene Mutation Database (HGMD): GNPTAB
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GNPTAB
    DNA2.0 Custom Variant and Variant Library Synthesis for GNPTAB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607840   
    OMIM disorders: 252600  252500  
    UniProtKB/Swiss-Prot: GNPTA_HUMAN, Q3T906
  • Mucolipidosis type II (MLII) [MIM:252500]: Fatal, autosomal recessive, lysosomal storage disorder
    characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive
    mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are
    evident soon after birth. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]: Autosomal recessive disease of
    lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia,
    and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac
    valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or
    mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for GNPTAB:    About MalaCards
    mucolipidosis ii    mucolipidosis iii alpha/beta    gnptab-related mucolipidoses    mucolipidosis
    mucolipidoses    mucolipidosis iii gamma    speech disorder    learning disability
    q fever    autosomal recessive disease    skeletal dysplasias    hernia
    short stature    mental retardation    schizophrenia    tuberculosis
    leukemia

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

    GNPTAB for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for GNPTAB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mucolipidosis iii 97.2 4 16630736 (1), 19659762 (1), 16465621 (1)
    i-cell disease 96.9 17 16116615 (4), 19659762 (3), 15997205 (1), 17964840 (1) (see all 10)
    mucolipidosis 95 3 19634183 (2), 19197337 (1)

    GeneTests: GNPTAB
    GeneReviews: GNPTAB
    Genetic Association Database (GAD): GNPTAB
    Human Genome Epidemiology (HuGE) Navigator: GNPTAB (4 documents)

    Export disorders for GNPTAB 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 GNPTAB gene, integrated from 9 sources (see all 49):
    (articles sorted by number of sources associating them with GNPTAB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. (PubMed id 19197337)1, 2, 4, 9 Otomo T.... Sakai N. (2009)
    2. 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. (PubMed id 10574462)1, 2, 3 Nagase T.... Ohara O. (1999)
    3. 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. (PubMed id 16465621)1, 2, 9 Kudo M.... Canfield W.M. (2006)
    4. 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. (PubMed id 16116615)1, 3, 9 Paik K.H....Jin D.K. (2005)
    5. When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. (PubMed id 16630736)1, 2, 9 Bargal R.... Raas-Rothschild A. (2006)
    6. Molecular characterization of 22 novel UDP-N-acetylgl ucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutatio ns causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. (PubMed id 19634183)1, 2, 9 Tappino B....Filocamo M. (2009)
    7. 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. (PubMed id 16835905)1, 2, 9 Tiede S.... Braulke T. (2006)
    8. The alpha- and beta-subunits of the human UDP-N- acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1- phosphotransferase are encoded by a single cDNA. (PubMed id 16120602)1, 2, 9 Kudo M.... Canfield W.M. (2005)
    9. Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. (PubMed id 18190596)1, 4, 9 Plante M....Laprise C. (2008)
    10. Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. (PubMed id 16094673)1, 2, 9 Tiede S.... Braulke T. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79158 HGNC: 29670 AceView: MGC4170 Ensembl:ENSG00000111670 euGenes: HUgn79158
    ECgene: GNPTAB Kegg: 79158 H-InvDB: GNPTAB

    (According to HUGE)
    About This Section
    HUGE: KIAA1208

    (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 GNPTAB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNPTAB

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

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



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