Gnptg
Gene Detail

Symbol Name ID

Gnptg N-acetylglucosamine-1-phosphotransferase, gamma subunit MGI:2147006

Feature Type

protein coding gene

Genetic Map

Chromosome 17

12.53 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr17:25234317-25240116 bp, - strand From NCBI annotation of GRCm38   5800 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:13047  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: N-acetylglucosamine-1-phosphotransferase, gamma subunit
Gene Tree: Gnptg

Human homologs

Human Homolog		GNPTG, N-acetylglucosamine-1-phosphate transferase, gamma subunit
NCBI Gene ID		84572
neXtProt AC		NX_Q9UJJ9
Human Synonyms		C16orf27, GNPTAG, LP2537, RJD9
Human Chr (Location)		16p13.3; chr16:1401900-1413352 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human GNPTG

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

Mice homozygous for a knock-out allele show a partial loss of lysosomal enzyme phosphorylation.

 

Gene Ontology (GO) classifications

All GO classifications: (7 annotations)

Process	N-glycan processing to lysosome
Component	extracellular region, Golgi apparatus, ...
Function	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (16)    Tissues (14)   
Theiler Stages: 17, 28

Assay Type	Results
Northern blot	2
RT-PCR	14

cDNA source data(5)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(6) cDNA(5) Primer pair(1)
Microarray probesets(1)

Other database links

Ensembl Gene Model	ENSMUSG00000035521 (Evidence)
Entrez Gene	214505 (Evidence)
NIA Mouse Gene Index	U037550
Consensus CDS Project	CCDS28511.1
International Mouse Knockout Project Status	Gnptg

Sequences

Length	Strain/Species
genomic	214505	NCBI Gene Model | MGI Sequence Detail	5800	C57BL/6J
transcript	NM_172529	RefSeq | MGI Sequence Detail	1234	C57BL/6
polypeptide	Q6S5C2	UniProt | EBI | MGI Sequence Detail	307	Not Applicable

All sequences(40) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(33 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR009011	Mannose-6-phosphate receptor binding domain
Protein Ontology	PR:000008126	N-acetylglucosamine-1-phosphotransferase subunit gamma

Graphical View of Protein Domain Structure

References

(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:175617 Schrader KA, et al., Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. J Pathol. 2011 Sep;225(1):12-8
All references(23)

Other accession IDs

MGI:2147005