Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84572
Gene name	N-acetylglucosamine-1-phosphate transferase subunit gamma
Gene symbol	GNPTG
Synonyms (NCBI Gene)	C16orf27GNPTAGLP2537RJD9
Chromosome	16
Chromosome location	16p13.3
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.

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
rs193302848	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs193302849	ACA>-	Likely-pathogenic, pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant
rs193302850	GACGCCTGCCGTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs193302851	->C	Pathogenic	Frameshift variant, coding sequence variant
rs193302853	GTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC>-	Pathogenic	Intron variant
rs193302854	G>C,T	Pathogenic	Splice acceptor variant
rs193302855	A>G	Pathogenic	Splice acceptor variant
rs193302856	G>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs193302857	->T	Pathogenic	Frameshift variant, coding sequence variant
rs193302858	TT>-,T	Pathogenic	Stop gained, frameshift variant, coding sequence variant
rs193302859	GAGGATGCTGGCTACTTAAAGACCCCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs281864956	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs376679416	G>A,C,T	Likely-pathogenic	Splice donor variant
rs756225251	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs756959430	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs763678034	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs775359476	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1060499690	G>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1060499691	G>A	Likely-pathogenic	Intron variant
rs1260510628	G>C,T	Likely-pathogenic	Splice donor variant
rs1336176104	G>A,C	Pathogenic	Intron variant
rs1555451608	T>A,C	Likely-pathogenic	Splice donor variant
rs1555451643	AT>-	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555451866	G>C	Likely-pathogenic	Splice acceptor variant
rs1555451874	AACCGGCTGGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555451988	->C	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26385638, 28514442
GO:0005576	Component	Extracellular region	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	27038293
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0016256	Process	N-glycan processing to lysosome	NAS	25505245
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0046835	Process	Carbohydrate phosphorylation	IDA	19955174
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070622	Component	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex	IPI	26385638

MIM	HGNC	e!Ensembl
607838	23026	ENSG00000090581

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

	KEGG
	Lysosome

288

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial cancer of breast	Likely pathogenic	rs2141632749	RCV005912612
GNPTG-mucolipidosis	Likely pathogenic; Pathogenic	rs2141632749, rs988175540, rs1451538466, rs2141861740, rs552402857, rs193302858, rs2141864418, rs368983807, rs2548190467, rs2548185540, rs771844889, rs193302856, rs1335120510, rs193302859, rs137852884 View all (39 more)	RCV005014520 RCV001831373 RCV004770133 RCV001843409 RCV004776305 RCV002052189 RCV002250025 RCV002309908 RCV002308242 RCV002309483 RCV002309506 RCV000002929 RCV002306932 RCV000002930 RCV000002931 RCV000002933 RCV002310125 RCV002310359 RCV003143371 RCV003152953 RCV003330126 RCV005014760 RCV003990072 RCV004576138 RCV000020916 RCV000020917 RCV000020918 RCV000020922 RCV000020923 RCV000020924 RCV000020926 RCV000449522 RCV000449610 RCV000023662 RCV000502548 RCV000667666 RCV000032347 RCV005019024 RCV000666922 RCV000673356 RCV000672939 RCV000673912 RCV000671760 RCV000667524 RCV000670131 RCV000669666 RCV000674626 RCV000671790 RCV000668554 RCV000673731 RCV000674922 RCV000667645 RCV000671921 RCV000669714 RCV000664681 RCV000669336 RCV001174527 RCV001175119 RCV001175118 RCV001780169
Melanoma	Pathogenic	rs112850896	RCV005924378
Mucolipidosis	Likely pathogenic	rs1060499690, rs1596603769	RCV000825527 RCV000825528
Nonpapillary renal cell carcinoma	Pathogenic	rs112850896	RCV005924377
Retinal dystrophy	Pathogenic; Likely pathogenic	rs193302848, rs193302849	RCV004814911 RCV004814912
Rod-cone dystrophy	Likely pathogenic; Pathogenic	rs193302849, rs756225251	RCV003105776 RCV003106016

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance	rs141870165	RCV005926709
GNPTG-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs1436743181, rs76594024, rs190614894, rs547624231, rs914207699, rs147109185, rs8062558, rs146171435, rs141807632, rs140264422, rs147048228, rs150965148, rs1596612776, rs368478807, rs1017797000	RCV003954491 RCV003920340 RCV003957642 RCV003910204 RCV003965425 RCV003940513 RCV003940700 RCV003968274 RCV003903033 RCV003960523 RCV003913192 RCV003960524 RCV003933209 RCV004758152 RCV003908488
Hepatocellular carcinoma	Likely benign	rs772637099	RCV005928409
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs373976323	RCV005901462
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs775604993, rs756694104	RCV005911162 RCV005930441

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Stuttering	Associate	20147709, 24807205, 25643770, 26130485, 31669185

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