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N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

Summary

Gene Symbol

GNPTAB

Aliases

KIAA1208
MGC4170

Organism

Homo sapiens (human)

External Links

NCBI Gene

79158

HGNC

29670

KEGG Gene ID

hsa:79158

PubChem

79158

Alliance of Genome Resources

HGNC:29670

Annotation

Keyword

3D-structure
Alternative splicing
Calcium
Disease variant
Disulfide bond
Glycoprotein
Golgi apparatus
Metal-binding
Mucolipidosis
Reference proteome
Repeat
Signal-anchor
Transferase
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q3T906	GlcNAc-1-phosphotransferase subunits alpha/beta Stealth protein GNPTAB UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
secretion of lysosomal enzymes	IEA
N-glycan processing to lysosome	IBA IMP	19938078 25505245
lysosome organization	IMP	21719679
carbohydrate phosphorylation	IBA IDA	19955174 23733939

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

N-glycan processing [inference]

N-glycan processing to lysosome

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation [inference]

carbohydrate phosphorylation

primary metabolic process [inference]

carbohydrate metabolic process [inference]

carbohydrate phosphorylation

protein metabolic process [inference]

glycoprotein metabolic process [inference]

N-glycan processing [inference]

N-glycan processing to lysosome

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

carbohydrate phosphorylation

macromolecule metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

N-glycan processing [inference]

N-glycan processing to lysosome

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

N-glycan processing [inference]

N-glycan processing to lysosome

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

N-glycan processing [inference]

N-glycan processing to lysosome

cellular process [inference]

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation [inference]

carbohydrate phosphorylation

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

protein secretion [inference]

secretion of lysosomal enzymes

establishment of protein localization to extracellular region [inference]

protein secretion [inference]

secretion of lysosomal enzymes

protein localization to extracellular region [inference]

establishment of protein localization to extracellular region [inference]

protein secretion [inference]

secretion of lysosomal enzymes

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

vacuole organization [inference]

lytic vacuole organization [inference]

lysosome organization

export from cell [inference]

secretion by cell [inference]

protein secretion [inference]

secretion of lysosomal enzymes

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

protein secretion [inference]

secretion of lysosomal enzymes

establishment of protein localization to extracellular region [inference]

protein secretion [inference]

secretion of lysosomal enzymes

protein localization to extracellular region [inference]

establishment of protein localization to extracellular region [inference]

protein secretion [inference]

secretion of lysosomal enzymes

establishment of localization [inference]

transport [inference]

secretion [inference]

secretion by cell [inference]

protein secretion [inference]

secretion of lysosomal enzymes

organic substance transport [inference]

protein transport [inference]

protein secretion [inference]

secretion of lysosomal enzymes

nitrogen compound transport [inference]

protein transport [inference]

protein secretion [inference]

secretion of lysosomal enzymes

export from cell [inference]

secretion by cell [inference]

protein secretion [inference]

secretion of lysosomal enzymes

establishment of protein localization [inference]

protein transport [inference]

protein secretion [inference]

secretion of lysosomal enzymes

establishment of protein localization to extracellular region [inference]

protein secretion [inference]

secretion of lysosomal enzymes

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

protein secretion [inference]

secretion of lysosomal enzymes

establishment of protein localization to extracellular region [inference]

protein secretion [inference]

secretion of lysosomal enzymes

protein localization to extracellular region [inference]

establishment of protein localization to extracellular region [inference]

protein secretion [inference]

secretion of lysosomal enzymes

Displaying **all 2** entries
GO Term	Evidence Code	PMID
Golgi apparatus	IBA IDA	21719679 25505245 25788519
Golgi membrane	IDA	23733939 24375680

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

Displaying **all 3** entries
GO Term	Evidence Code	PMID
calcium ion binding	IEA
UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IBA IDA IMP	19955174 23733939 25505245 25788519
protein binding	IPI	25416956 26385638 28514442 36074821

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

phosphotransferase activity, for other substituted phosphate groups [inference]

UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000111670

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K08239

Name

UDP-N-acetylglucosamine-lysosomal-enzyme [EC:2.7.8.17]

References

Rhea

RHEA:13581

UDP-N-acetyl-α-D-glucosamine

H⁺ + UMP

Enzyme

2.7.8.17

PMID

Disease

Disease Ontology

Displaying entries **21 - 30** of 72 in total

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DO ID	Disease Name	Source
DOID:1059	intellectual disability	DisGeNET
DOID:11836	clubfoot	DisGeNET
DOID:4451	renal carcinoma	DisGeNET
DOID:11984	hypertrophic cardiomyopathy	DisGeNET DisGeNET
DOID:12721	multiple epiphyseal dysplasia	DisGeNET
DOID:12798	mucopolysaccharidosis	DisGeNET
DOID:12799	mucopolysaccharidosis II	DisGeNET
DOID:12800	mucopolysaccharidosis VI	DisGeNET
DOID:12801	mucopolysaccharidosis III	DisGeNET
DOID:12802	mucopolysaccharidosis I	DisGeNET

The Human Phenotype Ontology

Displaying entries **91 - 100** of **172** in total

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HPO ID	HPO Term
HP:0002650	Scoliosis
HP:0002653	Bone pain
HP:0002673	Coxa valga
HP:0002680	J-shaped sella turcica
HP:0002684	Thickened calvaria
HP:0002690	Large sella turcica
HP:0002751	Kyphoscoliosis
HP:0002756	Pathologic fracture
HP:0002788	Recurrent upper respiratory tract infections
HP:0002797	Osteolysis

Displaying **all 4** entries
Disease ID	Disease Name
ORPHA:423461	mucolipidosis type III, alpha/beta
OMIM:252600	mucolipidosis type III, alpha/beta
ORPHA:576	mucolipidosis type II
OMIM:252500	mucolipidosis type II

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **11 - 20** of 82 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Sparus aurata	115595268		SPAAU48784
Xenopus laevis	108711016	Xenbase:XB-GENE-17339826
Xenopus laevis	108713209	Xenbase:XB-GENE-6487074
Chrysemys picta bellii	101937487		CHRPI16776
Crocodylus porosus	109316551		CROPO05650
Pseudonaja textilis	113454715		PSETE00910
Serinus canaria	103819648		SERCA15172
Ornithorhynchus anatinus	100075585		ORNAN06457
Sarcophilus harrisii	100917351		SARHA03283
Callithrix jacchus	100394765		CALJA45795

GlyTouCan

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GlycoPOST

UniCarb-DR

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Other Information

Tools

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Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements