Mus musculus Gene: Gnptab
Summary
InnateDB Gene IDBG-183343.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Gnptab
Gene Name N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000035311
Encoded Proteins
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000111670:
This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:88379132-88447329
Strand Forward strand
Band C1
Transcripts
ENSMUST00000020251 ENSMUSP00000020251
ENSMUST00000127615 ENSMUSP00000116915
ENSMUST00000151273 ENSMUSP00000118025
ENSMUST00000130301 ENSMUSP00000120643
ENSMUST00000132738
ENSMUST00000141343
ENSMUST00000155306
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
GO:0005509 calcium ion binding
GO:0008134 transcription factor binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
Biological Process
GO:0007040 lysosome organization
GO:0009306 protein secretion
GO:0030154 cell differentiation
GO:0046835 carbohydrate phosphorylation
Cellular Component
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Lysosome pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.335190 Mm.455716 Mm.469075
RefSeq NM_001004164 XM_006513849
OMIM
CCDS CCDS24110
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas