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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

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DO ID	Disease Name	Source
DOID:9455	lipid storage disease	DisGeNET
DOID:9521	Laron syndrome	DisGeNET

The Human Phenotype Ontology

Displaying entries **41 - 50** of **172** in total

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HPO ID	HPO Term
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001290	Generalized hypotonia
HP:0001319	Neonatal hypotonia
HP:0001328	Specific learning disability
HP:0001363	Craniosynostosis
HP:0001371	Flexion contracture

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 **31 - 40** of 82 in total

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Species	Gene ID	Orthologous MAtrix
Canis lupus familiaris	475443	CANLF04280
Vulpes vulpes	112930646	VULVU26006
Ailuropoda melanoleuca	100483884	AILME04281
Mustela putorius furo	101677824	MUSPF17314
Felis catus	101100231	FELCA15940
Panthera leo	122224991	PANLE18267
Balaenoptera musculus	118902282	BALMU04220
Loxodonta africana	100668883	LOXAF19792
Equus caballus	100067011	HORSE26100
Sus scrofa	100523554	PIGXX26657

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements