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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

HCOP human homology predictions: GNPTAB
Protein SuperFamily: N-acetylglucosamine-1-phosphotransferase, fused alpha/beta subunits
Gene Tree: Gnptab

Human
homologs
GNPTAB, N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 79158
neXtProt AC: NX_Q3T906

Human Synonyms: GNPTA, ICD

Human Chr (Location): 12q23.2; chr12:101745497-101830867 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human GNPTAB

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Chemically induced (ENU)(1) Gene trapped(4) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Gnptab (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Gnptab interacts with 448 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (19 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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(6)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase gnptab    NEW 
Molecular
reagents
All nucleic(6) cDNA(6)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000031924 (Evidence)
Ensembl Gene Model ENSMUSG00000035311 (Evidence)
Entrez Gene 432486 (Evidence)
NIA Mouse Gene Index U043101
EC 2.7.8.17
Consensus CDS Project CCDS24110.1
International Mouse Phenotyping Consortium Status Gnptab
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(51) RefSeq(10) 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:218156 Paton L, et al., A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology. J Biol Chem. 2014 Sep 26;289(39):26709-21
All references(36)
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
06/30/2015
MGI 5.22
The Jackson Laboratory