GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84572
Gene name Gene Name - the full gene name approved by the HGNC.
N-acetylglucosamine-1-phosphate transferase subunit gamma
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GNPTG
Synonyms (NCBI Gene) Gene synonyms aliases
C16orf27, GNPTAG, LP2537, RJD9
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(31)
SNP ID Visualize variation Clinical significance Consequence
rs76594024 G>A,C Conflicting-interpretations-of-pathogenicity, uncertain-significance Synonymous variant, 5 prime UTR variant, coding sequence variant
rs112850896 G>A,C Likely-pathogenic Splice acceptor variant
rs137852884 G>A Pathogenic 5 prime UTR variant, coding sequence variant, stop gained
rs137852885 G>A Pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs193302847 G>A,C Likely-pathogenic, pathogenic Splice acceptor variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0003976 Function UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IEA
GO:0005794 Component Golgi apparatus IBA 21873635
GO:0005794 Component Golgi apparatus ISS
GO:0042803 Function Protein homodimerization activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607838 23026 ENSG00000090581
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UJJ9
Protein name N-acetylglucosamine-1-phosphotransferase subunit gamma (GlcNAc-1-phosphotransferase subunit gamma) (UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma)
Protein function Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13015 PRKCSH_1 48 → 211 Glucosidase II beta subunit-like protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10712439}.
Sequence 
MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSG
PVHLFRLSGKCFSLVESTYKYEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTG
MWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYALTFETPLVCHPHALLVYPTL
PEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEENEPTQLEGGPDSLGFE
TLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLEHLGHETPRAKSPEQLRGDPG
LRGSL
Sequence length 305
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Lysosome  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Mental retardation Mild Mental Retardation rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Mucolipidosis Mucolipidoses, Mucolipidosis III Gamma, MUCOLIPIDOSIS II ALPHA/BETA (disorder), Mucolipidosis type III gamma rs281865025, rs137852896, rs137852897, rs137852898, rs281865038, rs137852899, rs281865031, rs281865027, rs34002892, rs34940801, rs34788341, rs137852900, rs104886461, rs121908371, rs121908372
View all (104 more)		 23430803, 10712439, 24316125, 15060128, 20034096, 26935170, 27896079, 27243974, 26108976, 19370764, 19708128, 27604308, 25182519, 27038293, 15532026
View all (1 more)
Myopia Myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
Scoliosis Scoliosis, unspecified rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining
Disease Name Relationship Type References
Atrial Fibrillation Associate 39864423
Disease Associate 28950892
Lysosomal Storage Diseases Associate 35939698
Mucolipidoses Associate 26130485, 27038293, 29872134, 35939698
Mucolipidosis II Alpha Beta Associate 26130485, 29872134
Mucolipidosis III Gamma Associate 26130485, 27038293, 28950892, 37752499
Myopia Associate 29346494
Neuraminidase 1 deficiency Associate 35023661
Retinitis Pigmentosa Associate 37752499
Scleroderma Systemic Associate 28950892