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Gnptg
Gene Detail
 Symbol
Name
ID
Gnptg
N-acetylglucosamine-1-phosphotransferase, gamma subunit
MGI:2147006
Feature Type protein coding gene
Genetic Map
Chromosome 17
12.53 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr17:25234317-25240116 bp, - strand
From NCBI annotation of GRCm38

  5800 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:13047  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: N-acetylglucosamine-1-phosphotransferase, gamma subunit
Gene Tree: Gnptg

Human
homologs
Human Homolog GNPTG, N-acetylglucosamine-1-phosphate transferase, gamma subunit
NCBI Gene ID 84572
neXtProt AC  NX_Q9UJJ9
Human Synonyms  C16orf27, GNPTAG, LP2537, RJD9
Human Chr (Location)  16p13.3; chr16:1351899-1363351 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human GNPTG
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Radiation induced(2) Targeted(3)
Genomic Mutations involving Gnptg (2)
 
Mice homozygous for a knock-out allele show a partial loss of lysosomal enzyme phosphorylation.
 
Interactions
Gnptg interacts with 176 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process carbohydrate phosphorylation, N-glycan processing to lysosome
Component extracellular region, extracellular vesicular exosome, ...
Function protein homodimerization activity, UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (16)    Tissues (14)   
Theiler Stages: 17, 28
Assay TypeResults
Northern blot 2
RT-PCR 14
cDNA source data(5)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(6) cDNA(5) Primer pair(1)
Microarray probesets(1)
Other database
links
Ensembl Gene ModelENSMUSG00000035521 (Evidence)
Entrez Gene214505 (Evidence)
NIA Mouse Gene IndexU037550
Consensus CDS ProjectCCDS28511.1
International Mouse Knockout Project StatusGnptg
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 214505 NCBI Gene Model | MGI Sequence Detail 5800 C57BL/6J ±  kb
transcript NM_172529 RefSeq | MGI Sequence Detail 1234 C57BL/6 
polypeptide Q6S5C2 UniProt | EBI | MGI Sequence Detail 307 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(74 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009011 Mannose-6-phosphate receptor binding domain
Protein Ontology PR:000008126 N-acetylglucosamine-1-phosphotransferase subunit gamma
Graphical View of Protein Domain Structure
References (Earliest) J:96976 Sun Q, et al., Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit in cells induced an I-cell-like phenotype of mucolipidosis. Gene. 2005 Feb 28;347(1):55-64
(Latest) J:206913 Encarnacao M, et al., Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase. J Biol Chem. 2011 Feb 18;286(7):5311-8
All references(25)
Other
accession IDs
MGI:2147005

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory