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Gnptg Gene Detail
Summary
  • Symbol
    Gnptg
  • Name
    N-acetylglucosamine-1-phosphotransferase, gamma subunit
  • Feature Type
    protein coding gene
  • IDs
    MGI:2147006
    NCBI Gene: 214505
Location & Maps
more
  • Sequence Map
    Chr17:25234317-25240170 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5854 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 12.53 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    GNPTG, N-acetylglucosamine-1-phosphate transferase gamma subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    GNPTG, N-acetylglucosamine-1-phosphate transferase gamma subunit
    Orthology source: HomoloGene
  • Synonyms
    C16orf27, GNPTAG, LP2537, RJD9
  • Links
    NCBI Gene ID: 84572
    neXtProt AC: NX_Q9UJJ9

  • Chr Location
    16p13.3; chr16:1351899-1363351 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human GNPTG associations

Human Disease Mouse Models
       Mucolipidosis III Gamma   OMIM: 252605
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Radiation induced
    2
  • Targeted
    3
  • Genomic Mutations
    2 involving Gnptg
Mice homozygous for a knock-out allele show a partial loss of lysosomal enzyme phosphorylation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 214505 NCBI Gene Model | MGI Sequence Detail 5854 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 sequence
Polymorphisms
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  • SNPs within 2kb
    74 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • InterPro Domains
    IPR010506 DMAP1-binding domain
    IPR009011 Mannose-6-phosphate receptor binding domain
Molecular
Reagents
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  • All nucleic 6
    cDNA 5
    Primer pair 1

    Microarray probesets 1
Other
Accession IDs
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MGI:2147005
References
more
  • Summaries
    All 23
    Developmental Gene Expression 1
    Gene Ontology 4
    Phenotypes 10
  • 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:223557 Idol RA, et al., Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III gamma. PLoS One. 2014;9(10):e109768

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory