Version 5.4
Homo sapiens Gene: GNPTG
Summary
InnateDB Gene IDBG-8860.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GNPTG
Gene Name N-acetylglucosamine-1-phosphate transferase, gamma subunit
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000090581
Encoded Proteins
IDBP-8862
N-acetylglucosamine-1-phosphate transferase, gamma subunit
IDBP-597025
N-acetylglucosamine-1-phosphate transferase, gamma subunit
IDBP-745191
IDBP-809757
N-acetylglucosamine-1-phosphate transferase, gamma subunit
IDBP-601971
N-acetylglucosamine-1-phosphate transferase, gamma subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:1351923-1364113
Strand Forward strand
Band p13.3
Transcripts
ENST00000204679 ENSP00000204679
ENST00000526820 ENSP00000434413
ENST00000527876 ENSP00000460728
ENST00000529957
ENST00000534197
ENST00000527137 ENSP00000480060
ENST00000527168
ENST00000529110 ENSP00000435349
ENST00000527076
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
GO:0042803 protein homodimerization activity
Biological Process
GO:0016256 N-glycan processing to lysosome
GO:0046835 carbohydrate phosphorylation
Cellular Component
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000035521
View Gene Order
ENSBTAG00000014118
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.241575
RefSeq NM_032520
HUGO
OMIM
CCDS CCDS10436
HPRD 06384
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca