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    gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [ Danio rerio (zebrafish) ]

    Gene ID: 553365, updated on 17-Nov-2024

    Summary

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    Official Symbol
    gnptabprovided by ZNC
    Official Full Name
    N-acetylglucosamine-1-phosphate transferase subunits alpha and betaprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030131-4714
    See related
    Ensembl:ENSDARG00000030153 AllianceGenome:ZFIN:ZDB-GENE-030131-4714
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    wu:fd55d09; zgc:122985; zgc:158502; si:ch211-234f20.3
    Summary
    Enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Involved in N-glycan processing to lysosome. Acts upstream of or within bone development; chondrocyte development; and embryonic viscerocranium morphogenesis. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Used to study mucolipidosis and mucolipidosis II alpha/beta. Human ortholog(s) of this gene implicated in mucolipidosis II alpha/beta and mucolipidosis III alpha/beta. Orthologous to human GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See gnptab in Genome Data Viewer
    Location:
    chromosome: 4
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 4 NC_007115.7 (17671631..17705108)
    105 previous assembly GRCz10 (GCF_000002035.5) 4 NC_007115.6 (17682604..17716132)

    Chromosome 4 - NC_007115.7Genomic Context describing neighboring genes Neighboring gene kelch-like family, member 42 Neighboring gene CWF19 like cell cycle control factor 1 Neighboring gene WASH complex subunit 3 Neighboring gene DNA-damage regulated autophagy modulator 1 Neighboring gene choline phosphotransferase 1 Neighboring gene myosin binding protein C1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. 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. Flanagan-Steet H, et al. Biochim Biophys Acta, 2016 Sep. PMID 27241848, Free PMC Article
    2. 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. Qian Y, et al. J Biol Chem, 2015 Jan 30. PMID 25505245, Free PMC Article
    3. The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module. Qian Y, et al. Proc Natl Acad Sci U S A, 2013 Jun 18. PMID 23733939, Free PMC Article
    4. Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II. Flanagan-Steet H, et al. Am J Pathol, 2009 Nov. PMID 19834066, Free PMC Article
    5. GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway. Zhang W, et al. Nat Commun, 2022 Sep 12. PMID 36096887, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.
      Title: Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.
    2. The DMAP interaction domain of the alpha subunit functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II.
      Title: The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC122985, MGC158502

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity, transferring phosphorus-containing groups IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in N-glycan processing to lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in N-glycan processing to lysosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in N-glycan processing to lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within bone development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within bone development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in carbohydrate phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within cartilage development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within chondrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic cranial skeleton morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic viscerocranium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    Names
    N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
    UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    glcNAc-1-phosphotransferase subunits alpha/beta
    stealth protein gnptab
    NP_001038233.1
    XP_005164801.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001044768.3 → NP_001038233.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

      See identical proteins and their annotated locations for NP_001038233.1

      Status: PROVISIONAL

      Source sequence(s)
      BX890572
      UniProtKB/Swiss-Prot
      Q568G1, Q5RGJ8
      Related
      ENSDARP00000106477.3, ENSDART00000121714.5
      Conserved Domains (6) summary
      pfam00066
      Location:440 → 474
      Notch; LNR domain
      pfam06464
      Location:696 → 775
      DMAP_binding; DMAP1-binding Domain
      pfam11380
      Location:327 → 434
      Stealth_CR2; Stealth protein CR2, conserved region 2
      pfam17101
      Location:78 → 106
      Stealth_CR1; Stealth protein CR1, conserved region 1
      pfam17102
      Location:920 → 968
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:1103 → 1159
      Stealth_CR4; Stealth protein CR4, conserved region 4

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007115.7 Reference GRCz11 Primary Assembly

      Range
      17671631..17705108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005164744.5 → XP_005164801.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X1

      UniProtKB/TrEMBL
      A0A8M2BBZ0
      Related
      ENSDARP00000040444.7, ENSDART00000040445.7
      Conserved Domains (6) summary
      pfam00066
      Location:440 → 474
      Notch; LNR domain
      pfam06464
      Location:699 → 778
      DMAP_binding; DMAP1-binding Domain
      pfam11380
      Location:327 → 434
      Stealth_CR2; Stealth protein CR2, conserved region 2
      pfam17101
      Location:78 → 106
      Stealth_CR1; Stealth protein CR1, conserved region 1
      pfam17102
      Location:923 → 971
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:1106 → 1162
      Stealth_CR4; Stealth protein CR4, conserved region 4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5RGJ8.1 GenPept UniProtKB/Swiss-Prot:Q5RGJ8

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