Protein Description

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

No databases found.

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