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Gnptab
Gene Detail
 Symbol
Name
ID
Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
MGI:3643902
Synonyms EG432486
Feature Type protein coding gene
Genetic Map
Chromosome 10
43.86 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr10:88379132-88447329 bp, + strand
From VEGA annotation of GRCm38

  68198 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32576  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: N-acetylglucosamine-1-phosphotransferase, fused alpha/beta subunits
Gene Tree: Gnptab

Human
homologs
Human Homolog GNPTAB, N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
NCBI Gene ID 79158
neXtProt AC  NX_Q3T906
Human Synonyms  GNPTA, ICD
Human Chr (Location)  12q23.2; chr12:101745497-101830867 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human GNPTAB
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(4) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in growth retardation, elevated levels of serum lysosomal enzymes, chondrocyte defects, retinal degeneration, and secretory cell lesions.
 
Human Diseases Modeled Using Mouse Gnptab (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Gnptab interacts with 449 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process carbohydrate phosphorylation, cell differentiation, ...
Component cell, Golgi apparatus, ...
Function calcium ion binding, metal ion binding, ...
Expression
Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)   
Theiler Stages: 22
Assay TypeResults
RNA in situ 94
cDNA source data(6)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(6) cDNA(6)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000031924 (Evidence)
Ensembl Gene ModelENSMUSG00000035311 (Evidence)
Entrez Gene432486 (Evidence)
NIA Mouse Gene IndexU043101
EC2.7.8.17
Consensus CDS ProjectCCDS24110.1
International Mouse Knockout Project StatusGnptab
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031924 VEGA Gene Model | MGI Sequence Detail 68198 C57BL/6J ±  kb
transcript OTTMUST00000079166 VEGA | MGI Sequence Detail 5390 Not Applicable 
polypeptide OTTMUSP00000042189 VEGA | MGI Sequence Detail 1235 Not Applicable 

For the selected sequences
All sequences(49) RefSeq(8) UniProt(6)
Polymorphisms SNPs within 2kb(1024 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1026)
Protein-related
information
ResourceIDDescription
InterPro IPR010506 DMAP1-binding
InterPro IPR018247 EF-Hand 1, calcium-binding site
InterPro IPR002048 EF-hand domain
InterPro IPR000800 Notch domain
InterPro IPR021520 Protein of unknown function DUF3184
Protein Ontology PR:000008125 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
References (Earliest) J:85162 Hansen J, et al., A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Proc Natl Acad Sci U S A. 2003 Aug 19;100(17):9918-22
(Latest) J:202751 Kollmann K, et al., Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. EMBO Mol Med. 2013 Dec;5(12):1871-86
All references(37)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory