Protein Description

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

No diseases found.

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

No databases found.

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