Homo sapiens Protein: SGMS1
Summary
InnateDB Protein IDBP-74411.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SGMS1
Protein Name sphingomyelin synthase 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000355235
InnateDB Gene IDBG-74409 (SGMS1)
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. Golgi apparatus SMS1 directly and specifically recognizes the choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Major form in macrophages. Required for cell growth in certain cell types such as HeLa cells. Suppresses BAX-mediated apoptosis and also prevents cell death in response to stimuli such as hydrogen peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids. May protect against cell death by reversing the stress-inducible increase in levels of proapoptotic ceramide. {ECO:0000269PubMed:14685263, ECO:0000269PubMed:17449912}.
Subcellular Localization Golgi apparatus membrane {ECO:0000269PubMed:14685263, ECO:0000269PubMed:17449912, ECO:0000269PubMed:18694848}; Multi-pass membrane protein {ECO:0000269PubMed:14685263, ECO:0000269PubMed:17449912, ECO:0000269PubMed:18694848}.
Disease Associations
Tissue Specificity Brain, heart, kidney, liver, muscle and stomach. {ECO:0000269PubMed:11841947, ECO:0000269PubMed:14685263, ECO:0000269PubMed:15315829}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
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:0006915 apoptotic process
GO:0016049 cell growth
GO:0016310 phosphorylation
GO:0030148 sphingolipid biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000138 Golgi trans cisterna
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030173 integral component of Golgi membrane
Protein Structure and Domains
PDB ID
InterPro IPR001660 Sterile alpha motif domain
IPR013761 Sterile alpha motif/pointed domain
IPR021129 Sterile alpha motif, type 1
PFAM PF00536
PRINTS
PIRSF
SMART SM00454
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q86VZ5
PhosphoSite PhosphoSite-Q86VZ5
TrEMBL C0MHM2
UniProt Splice Variant
Entrez Gene 259230
UniGene Hs.654698
RefSeq XP_006717811
HUGO HGNC:29799
OMIM 611573
CCDS
HPRD 18203
IMGT
EMBL AB154421 AC069547 AK026683 AL117341 AL596137 AY280959 AY312431 AY332650 AY364088 BC042899 BN000143 FM210200 FN870365
GenPept AAH42899 AAP37279 AAQ22363 AAQ82051 AAR13294 BAD16809 CAD79708 CAR65042 CBM41470