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 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; chr12:102139275-102224645 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human GNPTAB

Alleles and phenotypes

All alleles(6) : Targeted(2) Gene trapped(4)
 

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(1)   

Gene Ontology (GO) classifications

All GO classifications: (13 annotations)

Process	carbohydrate phosphorylation, cell differentiation, ...
Component	Golgi apparatus, integral to membrane, ...
Function	metal ion binding, transcription factor binding, ...

Expression

Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)   
Theiler Stages: 22

Assay Type	Results
RNA in situ	94

cDNA source data(6)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Gnptab

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031924	VEGA Gene Model | MGI Sequence Detail	68198	C57BL/6J
transcript	OTTMUST00000079166	VEGA | MGI Sequence Detail	5390	Not Applicable
polypeptide	OTTMUSP00000042189	VEGA | MGI Sequence Detail	1235	Not Applicable

All sequences(43) RefSeq(2) UniProt(6)

Polymorphisms

SNPs(478 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR010506	DMAP1-binding
InterPro	IPR018247	EF-Hand 1, calcium-binding site
InterPro	IPR018249	EF-HAND 2
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:182995 Boonen M, et al., Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes. Mol Biol Cell. 2011 Apr 15;22(8):1135-47
All references(35)