Homo sapiens Gene: GNPTG
Summary
InnateDB Gene IDBG-8860.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol GNPTG
Gene Name N-acetylglucosamine-1-phosphate transferase, gamma subunit
Synonyms C16orf27; GNPTAG; LP2537; RJD9;
Species Homo sapiens
Ensembl Gene ENSG00000090581
Encoded Proteins
N-acetylglucosamine-1-phosphate transferase, gamma subunit
N-acetylglucosamine-1-phosphate transferase, gamma subunit
N-acetylglucosamine-1-phosphate transferase, gamma subunit
Protein Structure
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 16:1401924-1413352
Strand Forward strand
Band p13.3
Transcripts
ENST00000204679 ENSP00000204679
ENST00000526820 ENSP00000434413
ENST00000527876 ENSP00000460728
ENST00000529957
ENST00000534197
ENST00000527137
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
Biological Process
Cellular Component
GO:0005576 extracellular region
GO:0005794 Golgi apparatus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9UJJ9
TrEMBL E9PQQ5 Q96RZ2
UniProt Splice Variant
Entrez Gene 84572
UniGene Hs.241575
RefSeq NM_032520
HUGO 23026
OMIM 607838
CCDS CCDS10436
HPRD 06384
IMGT
EMBL AE006467 AF302786 AK312067 AL031709 AY203933 BC014592 CH471112
GenPept AAG27706 AAH14592 AAK61277 AAP34456 BAG35003 CAB56184 EAW85667 EAW85668
ImmGen GNPTG (murine)
RNA Seq Atlas 84572