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Gnptab Gene Detail
Summary
  • Symbol
    Gnptab
  • Name
    N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
  • Synonyms
    EG432486
  • Feature Type
    protein coding gene
  • IDs
    MGI:3643902
    NCBI Gene: 432486
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:88215130-88283186 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 43.86 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    2412 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3643902
 protein coding gene Chr10:88214994-88283191 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017626
 protein coding gene Chr10:89463287-89531591 (+)
A/J MGP_AJ_G0017605
 protein coding gene Chr10:86439070-86507513 (+)
AKR/J MGP_AKRJ_G0017563
 protein coding gene Chr10:88899860-88969076 (+)
BALB/cJ MGP_BALBcJ_G0017568
 protein coding gene Chr10:86721752-86789873 (+)
C3H/HeJ MGP_C3HHeJ_G0017391
 protein coding gene Chr10:88877638-88945172 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018025
 protein coding gene Chr10:92474972-92545963 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015707
 protein coding gene Chr10:82207313-82278689 (+)
CAST/EiJ MGP_CASTEiJ_G0016956
 protein coding gene Chr10:88787157-88860765 (+)
CBA/J MGP_CBAJ_G0017360
 protein coding gene Chr10:96303731-96374589 (+)
DBA/2J MGP_DBA2J_G0017466
 protein coding gene Chr10:85558124-85628724 (+)
FVB/NJ MGP_FVBNJ_G0017458
 protein coding gene Chr10:84784817-84852677 (+)
LP/J MGP_LPJ_G0017540
 protein coding gene Chr10:90129952-90200544 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017489
 protein coding gene Chr10:97798568-97870108 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018062
 protein coding gene Chr10:88733843-88805097 (+)
PWK/PhJ MGP_PWKPhJ_G0016737
 protein coding gene Chr10:85577280-85648103 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016525
 protein coding gene Chr10:87475709-87545645 (+)
WSB/EiJ MGP_WSBEiJ_G0017015
 protein coding gene Chr10:88712166-88782845 (+)



Homology
more
  • Human Ortholog
    GNPTAB, N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GNPTAB, N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
  • Synonyms
    GNPTA, ICD
  • Links
    NCBI Gene ID: 79158
    neXtProt AC: NX_Q3T906
    UniProt: Q3T906

  • Chr Location
    12q23.2; chr12:101745499-101830959 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gnptab mouse models; 2 with human GNPTAB associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    106 phenotypes from 5 alleles in 6 genetic backgrounds
    4 images
    41 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.
Homozygous mutations cause stunted growth, high lysosomal enzyme levels, skeletal defects, retinal degeneration and secretory cell lesions. Homozygotes for an ENU allele show skeletal and facial defects, altered enzymatic activities, lysosomal storage, Purkinje cell loss, ataxia and premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    800
  • Tissues
    94
  • cDNA Data
    8
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 432486 NCBI Gene Model | MGI Sequence Detail 68057 C57BL/6J ±  kb
    transcript NM_001004164 RefSeq | MGI Sequence Detail 5343 C57BL/6  
    polypeptide Q69ZN6 UniProt | EBI | MGI Sequence Detail 1235 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 8

      Microarray probesets 5
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 1
      Diseases 4
      Gene Ontology 6
      Phenotypes 41
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory