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Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits [ Mus musculus (house mouse) ]

Gene ID: 432486, updated on 2-Nov-2024

Summary

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Official Symbol
Gnptabprovided by MGI
Official Full Name
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunitsprovided by MGI
Primary source
MGI:MGI:3643902
See related
Ensembl:ENSMUSG00000035311 AllianceGenome:MGI:3643902
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
EG432486
Summary
Predicted to enable UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Acts upstream of or within carbohydrate phosphorylation; establishment of localization in cell; and secretion of lysosomal enzymes. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Used to study 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]
Expression
Ubiquitous expression in CNS E18 (RPKM 16.6), subcutaneous fat pad adult (RPKM 10.3) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Gnptab in Genome Data Viewer
Location:
10 C1; 10 43.86 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (88215130..88283186)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (88379134..88447324)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene DNA-damage regulated autophagy modulator 1 Neighboring gene predicted gene, 51779 Neighboring gene STARR-positive B cell enhancer ABC_E2332 Neighboring gene STARR-positive B cell enhancer ABC_E11453 Neighboring gene predicted gene, 40733 Neighboring gene STARR-positive B cell enhancer ABC_E5162 Neighboring gene STARR-positive B cell enhancer mm9_chr10:87872706-87873007 Neighboring gene STARR-positive B cell enhancer ABC_E2333 Neighboring gene STARR-positive B cell enhancer ABC_E3906 Neighboring gene synaptonemal complex protein 3 Neighboring gene choline phosphotransferase 1 Neighboring gene STARR-seq mESC enhancer starr_27496 Neighboring gene myosin binding protein C, slow-type Neighboring gene STARR-seq mESC enhancer starr_27498 Neighboring gene STARR-positive B cell enhancer ABC_E6897

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development. Koehne T, et al. Biochim Biophys Acta, 2016 Sep. PMID 27239697
  2. Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice. Kollmann K, et al. Brain, 2012 Sep. PMID 22961545, Free PMC Article
  3. Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. Kollmann K, et al. EMBO Mol Med, 2013 Dec. PMID 24127423, Free PMC Article
  4. Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions. Otomo T, et al. J Cell Biol, 2015 Jan 19. PMID 25601403, Free PMC Article
  5. Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes. Boonen M, et al. Mol Biol Cell, 2011 Apr 15. PMID 21325625, Free PMC Article

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene.
    Title: A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.
  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.
  3. Retinal degeneration with storage disease phenotype in most exocrine glands in Gnptab null mice
    Title: Comparative pathology of murine mucolipidosis types II and IIIC.
  4. Vacuolization of mucolipidosis type II mouse exocrine gland cells (GlcNAc-1-phosphotransferase-deficient mice) represents accumulation of autolysosomes.
    Title: Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1208, MGC79224

Gene Ontology Provided by MGI

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 ISO
Inferred from Sequence Orthology
more info
  
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
  
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in N-glycan processing to lysosome ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within carbohydrate phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in carbohydrate phosphorylation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within establishment of localization in cell IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lysosome organization ISO
Inferred from Sequence Orthology
more info
  
involved_in lysosome organization ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within protein secretion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within secretion of lysosomal enzymes IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in Golgi membrane ISO
Inferred from Sequence Orthology
more info
  
located_in Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
Names
UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
glcNAc-1-phosphotransferase subunits alpha/beta
stealth protein GNPTAB
NP_001004164.2
NP_001351636.1
NP_001408246.1
NP_001408247.1
NP_001408248.1
XP_006513912.1
XP_017169515.1

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_001004164.3 → NP_001004164.2  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 1

    See identical proteins and their annotated locations for NP_001004164.2

    Status: VALIDATED

    Source sequence(s)
    AK140867, AK173132
    Consensus CDS
    CCDS24110.1
    UniProtKB/Swiss-Prot
    Q3U3K6, Q3US34, Q69ZN6
    Related
    ENSMUSP00000020251.8, ENSMUST00000020251.10
    Conserved Domains (6) summary
    pfam00066
    Location:435 → 469
    Notch; LNR domain
    pfam06464
    Location:699 → 811
    DMAP_binding; DMAP1-binding Domain
    pfam11380
    Location:322 → 429
    Stealth_CR2; Stealth protein CR2, conserved region 2
    pfam17101
    Location:73 → 101
    Stealth_CR1; Stealth protein CR1, conserved region 1
    pfam17102
    Location:934 → 982
    Stealth_CR3; Stealth protein CR3, conserved region 3
    pfam17103
    Location:1117 → 1173
    Stealth_CR4; Stealth protein CR4, conserved region 4

  2. NM_001364707.2 → NP_001351636.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC125486
    Conserved Domains (6) summary
    pfam06464
    Location:653 → 765
    DMAP_binding; DMAP1-binding Domain
    pfam00066
    Location:390 → 423
    Notch; LNR domain
    pfam11380
    Location:276 → 383
    Stealth_CR2; Stealth protein CR2, conserved region 2
    pfam17101
    Location:27 → 55
    Stealth_CR1; Stealth protein CR1, conserved region 1
    pfam17102
    Location:888 → 936
    Stealth_CR3; Stealth protein CR3, conserved region 3
    pfam17103
    Location:1071 → 1127
    Stealth_CR4; Stealth protein CR4, conserved region 4

  3. NM_001421317.1 → NP_001408246.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AC125486

  4. NM_001421318.1 → NP_001408247.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC125486

  5. NM_001421319.1 → NP_001408248.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC125486

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    88215130..88283186
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006513849.3 → XP_006513912.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X2

    Conserved Domains (4) summary
    pfam00066
    Location:27 → 60
    Notch; LNR domain
    pfam06464
    Location:290 → 402
    DMAP_binding; DMAP1-binding Domain
    pfam17102
    Location:525 → 573
    Stealth_CR3; Stealth protein CR3, conserved region 3
    pfam17103
    Location:708 → 764
    Stealth_CR4; Stealth protein CR4, conserved region 4

  2. XM_017314026.2 → XP_017169515.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X3

    Conserved Domains (3) summary
    pfam06464
    Location:98 → 210
    DMAP_binding; DMAP1-binding Domain
    pfam17102
    Location:333 → 381
    Stealth_CR3; Stealth protein CR3, conserved region 3
    pfam17103
    Location:516 → 572
    Stealth_CR4; Stealth protein CR4, conserved region 4
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q69ZN6.2 GenPept UniProtKB/Swiss-Prot:Q69ZN6

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