Gene Symbol | GNPTAB |
Entrez ID | 79158 |
Uniprot ID | Q3T906 |
Description | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits |
Chromosomal Location | chr12: 101,745,497-101,830,938 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0007040 |
lysosome organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. |
IMP |
BP |
GO:0016256 |
N-glycan processing to lysosome |
The modification of high-mannose N-glycans by UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase and the subsequent removal of the N-acetylglucosamine residues yielding mannose-6-P that occurs in the ER-Golgi apparatus to N-glycans destined for the lysosome. |
IMP |
BP |
GO:0033299 |
secretion of lysosomal enzymes |
The controlled release of lysosomal enzymes by a cell. |
IEA |
BP |
GO:0046835 |
carbohydrate phosphorylation |
The process of introducing a phosphate group into a carbohydrate, any organic compound based on the general formula Cx(H2O)y. |
IDA |
CC |
GO:0000139 |
Golgi membrane |
The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
IDA |
CC |
GO:0005794 |
Golgi apparatus |
A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. |
IDA |
CC |
GO:0016021 |
integral component of membrane |
The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
IEA |
MF |
GO:0003976 |
UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity |
Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose = UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose. |
IDA|IMP |
MF |
GO:0005509 |
calcium ion binding |
Interacting selectively and non-covalently with calcium ions (Ca2+). |
IEA |
Domain ID | Description |
---|---|
IPR000800 |
Notch domain |
IPR002048 |
EF-hand domain |
IPR010506 |
DMAP1-binding domain |
IPR018247 |
EF-Hand 1, calcium-binding site |
IPR021520 |
Stealth protein CR2, conserved region 2 |
IPR031356 |
Stealth protein CR4, conserved region 4 |
IPR031357 |
Stealth protein CR3, conserved region 3 |
IPR031358 |
Stealth protein CR1, conserved region 1 |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa04142 |
Lysosome |
KEGG |
UMLS CUI | UMLS Term |
---|---|
C0020725 |
Type Ii Mucolipidosis |
C0033788 |
Pseudo-Hurler Polydystrophy |
C0086647 |
Mucopolysaccharidosis Type Iiia |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
appendix |
glandular cells |
bronchus |
respiratory epithelial cells |
caudate |
neuronal cells |
cerebellum |
Purkinje cells |
cerebral cortex |
neuronal cells |
cervix, uterine |
glandular cells |
cervix, uterine |
squamous epithelial cells |
colon |
glandular cells |
duodenum |
glandular cells |
endometrium |
glandular cells |
epididymis |
glandular cells |
esophagus |
squamous epithelial cells |
fallopian tube |
glandular cells |
gallbladder |
glandular cells |
hippocampus |
neuronal cells |
liver |
hepatocytes |
nasopharynx |
respiratory epithelial cells |
oral mucosa |
squamous epithelial cells |
pancreas |
exocrine glandular cells |
placenta |
trophoblastic cells |
rectum |
glandular cells |
salivary gland |
glandular cells |
skin |
keratinocytes |
skin |
Langerhans |
skin |
melanocytes |
skin |
epidermal cells |
small intestine |
glandular cells |
stomach |
glandular cells |
thyroid gland |
glandular cells |
tonsil |
germinal center cells |
urinary bladder |
urothelial cells |
vagina |
squamous epithelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
APP |
351 |
P05067 |
0.56 |
MAPK1 |
5594 |
P28482 |
0.63 |
DISC1 |
27185 |
Q9NRI5 |
0.73 |
ANAPC15 |
25906 |
P60006 |
0.63 |
PDYN |
5173 |
P01213 |
0.63 |
PSMA1 |
5682 |
P25786 |
0.63 |
RASSF7 |
8045 |
Q02833 |
0.63 |
B3GALT2 |
8707 |
O43825 |
0.63 |
PICK1 |
9463 |
Q9NRD5 |
0.63 |
FAM90A1 |
55138 |
Q86YD7 |
0.63 |
STAMBPL1 |
57559 |
Q96FJ0 |
0.63 |
ZNF250 |
58500 |
P15622 |
0.63 |
AEN |
64782 |
Q8WTP8 |
0.63 |
SGCZ |
137868 |
Q96LD1 |
0.63 |
FAM134C |
162427 |
Q86VR2 |
0.63 |
THOC2 |
57187 |
Q8NI27 |
0.72 |