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
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
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000111670

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

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

KEGG BRITE Database
Orthology
K08239
Name
UDP-N-acetylglucosamine-lysosomal-enzyme [EC:2.7.8.17]
References
Disease
Disease Ontology
Displaying entries 41 - 50 of 72 in total
DO ID Disease Name Source
DOID:2340 craniosynostosis
DOID:2355 anemia
DOID:2361 macrocytic anemia
DOID:255 hemangioma
DOID:2566 corneal dystrophy
DOID:2725 capillary hemangioma
DOID:2734 keratosis follicularis
DOID:2738 pseudoxanthoma elasticum
DOID:319 spinal cord disease
DOID:3211 lysosomal storage disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 172 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000105 Enlarged kidney
HP:0000154 Wide mouth
HP:0000158 Macroglossia
HP:0000212 Gingival overgrowth
HP:0000243 Trigonocephaly
HP:0000280 Coarse facial features
HP:0000286 Epicanthus
HP:0000293 Full cheeks
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024