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 1 - 10 of 72 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050431 arrhythmogenic right ventricular cardiomyopathy
DOID:0050700 cardiomyopathy
DOID:0050847 sleep apnea
DOID:0050848 obstructive sleep apnea
DOID:0060243 stuttering
DOID:0060249 scoliosis
DOID:0060305 megalocornea
DOID:0060320 inguinal hernia
The Human Phenotype Ontology
Displaying entries 51 - 60 of 172 in total
HPO ID HPO Term
HP:0001376 Limitation of joint mobility
HP:0001385 Hip dysplasia
HP:0001387 Joint stiffness
HP:0001433 Hepatosplenomegaly
HP:0001498 Carpal bone hypoplasia
HP:0001508 Failure to thrive
HP:0001510 Growth delay
HP:0001537 Umbilical hernia
HP:0001538 Protuberant abdomen
HP:0001540 Diastasis recti
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