Gene Symbol | SGMS1 |
Entrez ID | 259230 |
Uniprot ID | Q86VZ5 |
Description | sphingomyelin synthase 1 |
Chromosomal Location | chr10: 50,305,586-50,625,163 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0006686 |
sphingomyelin biosynthetic process |
The chemical reactions and pathways resulting in the formation of sphingomyelin, N-acyl-4-sphingenyl-1-O-phosphorylcholine. |
IDA |
BP |
GO:0006915 |
apoptotic process |
A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
IEA |
BP |
GO:0016049 |
cell growth |
The process in which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present. |
IDA |
BP |
GO:0016310 |
phosphorylation |
The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
IEA |
BP |
GO:0030148 |
sphingolipid biosynthetic process |
The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). |
TAS |
BP |
GO:0046513 |
ceramide biosynthetic process |
The chemical reactions and pathways resulting in the formation of ceramides, any N-acylated sphingoid. |
IBA|IDA |
CC |
GO:0000138 |
Golgi trans cisterna |
The Golgi cisterna farthest from the endoplasmic reticulum; the final processing compartment through which proteins pass before exiting the Golgi apparatus; the compartment in which N-linked protein glycosylation is completed. |
IDA |
CC |
GO:0000139 |
Golgi membrane |
The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
TAS |
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
TAS |
CC |
GO:0005783 |
endoplasmic reticulum |
The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
TAS |
CC |
GO:0005886 |
plasma membrane |
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
TAS |
CC |
GO:0005887 |
integral component of plasma membrane |
The component of the plasma 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. |
IBA |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0030173 |
integral component of Golgi membrane |
The component of the Golgi 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. |
IDA |
CC |
GO:0030176 |
integral component of endoplasmic reticulum membrane |
The component of the endoplasmic reticulum 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. |
IBA |
MF |
GO:0002950 |
ceramide phosphoethanolamine synthase activity |
Catalysis of the reaction: CDP-ethanolamine + a ceramide = CMP + a ceramide phosphoethanolamine. |
IDA |
MF |
GO:0016301 |
kinase activity |
Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
IEA |
MF |
GO:0033188 |
sphingomyelin synthase activity |
Catalysis of the reaction: 1,2-diacyl-sn-glycero-3-phosphocholine + ceramide = 1,2-diacyl-sn-glycerol + sphingomyelin. |
IMP|TAS |
MF |
GO:0047493 |
ceramide cholinephosphotransferase activity |
Catalysis of the reaction: CDP-choline + ceramide = CMP + H(+) + sphingomyelin. |
IDA |
Domain ID | Description |
---|---|
IPR001660 |
Sterile alpha motif domain |
IPR013761 |
Sterile alpha motif/pointed domain |
IPR025749 |
Sphingomyelin synthase-like domain |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa00600 |
Sphingolipid metabolism |
KEGG |
hsa01100 |
Metabolic pathways |
KEGG |
hsa04071 |
Sphingolipid signaling pathway |
KEGG |
Tissue | Cell Type |
---|---|
cervix, uterine |
squamous epithelial cells |
esophagus |
squamous epithelial cells |
gallbladder |
glandular cells |
liver |
bile duct cells |
oral mucosa |
squamous epithelial cells |
pancreas |
exocrine glandular cells |
vagina |
squamous epithelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
STK4 |
6789 |
Q13043 |
0.52 |
ATXN1 |
6310 |
P54253 |
0.63 |