Homo sapiens Protein: SGMS2
Summary
InnateDB Protein IDBP-241086.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SGMS2
Protein Name sphingomyelin synthase 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000378178
InnateDB Gene IDBG-33373 (SGMS2)
Protein Structure
UniProt Annotation
Function Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine (PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types. Regulator of cell surface levels of ceramide, an important mediator of signal transduction and apoptosis. Regulation of sphingomyelin (SM) levels at the cell surface affects insulin sensitivity. {ECO:0000269PubMed:14685263, ECO:0000269PubMed:17449912}.
Subcellular Localization Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Note=Predominantly plasma membrane, some in Golgi apparatus. Some localization in the perinuclear region where it colocalizes with a sialyltransferase.
Disease Associations
Tissue Specificity Brain, heart, kidney, liver, muscle and stomach. Also expressed in a number of cell lines such as carcinoma HeLa cells, hepatoma Hep-G2 cells, and colon carcinoma Caco-2 cells. {ECO:0000269PubMed:14685263}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0016301 kinase activity
GO:0033188 sphingomyelin synthase activity
GO:0047493 ceramide cholinephosphotransferase activity
Biological Process
GO:0006665 sphingolipid metabolic process
GO:0006686 sphingomyelin biosynthetic process
GO:0016310 phosphorylation
GO:0030148 sphingolipid biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0030173 integral component of Golgi membrane
Protein Structure and Domains
PDB ID
InterPro IPR000326 Phosphatidic acid phosphatase type 2/haloperoxidase
PFAM PF01569
PRINTS
PIRSF
SMART SM00014
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8NHU3
PhosphoSite PhosphoSite-Q8NHU3
TrEMBL E5RJU3
UniProt Splice Variant
Entrez Gene 166929
UniGene Hs.706939
RefSeq NP_689834
HUGO HGNC:28395
OMIM 611574
CCDS CCDS3677
HPRD 11323
IMGT
EMBL AC096564 AF452717 AK290344 AK314049 BC028705 BC041369 CH471057
GenPept AAH28705 AAH41369 AAP13352 BAF83033 BAG36758 EAX06211 EAX06212 EAX06213