Mus musculus Protein: Sgms1
Summary
InnateDB Protein IDBP-539829.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Sgms1
Protein Name sphingomyelin synthase 1
Synonyms
Species Mus musculus
Ensembl Protein ENSMUSP00000117336
InnateDB Gene IDBG-158524 (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 (By similarity). 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:0000250, ECO:0000269PubMed:16879426, ECO:0000269PubMed:22580896}.
Subcellular Localization Golgi apparatus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
Disease Associations
Tissue Specificity Isoform 1 is widely expressed, isoform 2 shows a more narrow distribution and isoform 3 is detected only in testis and heart. {ECO:0000269PubMed:16226406}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0005515 protein binding
GO:0016301 kinase activity
GO:0033188 sphingomyelin synthase activity
GO:0047493 ceramide cholinephosphotransferase activity
Biological Process
GO:0006686 sphingomyelin biosynthetic process
GO:0006915 apoptotic process
GO:0006954 inflammatory response
GO:0010628 positive regulation of gene expression
GO:0016049 cell growth
GO:0016310 phosphorylation
GO:0071222 cellular response to lipopolysaccharide
GO:0071356 cellular response to tumor necrosis factor
GO:2001237 negative regulation of extrinsic apoptotic signaling pathway
Cellular Component
GO:0000138 Golgi trans cisterna
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 MGI:2444110
InterPro IPR000326 Phosphatidic acid phosphatase type 2/haloperoxidase
IPR001660 Sterile alpha motif domain
IPR013761 Sterile alpha motif/pointed domain
IPR021129 Sterile alpha motif, type 1
PFAM PF01569
PF00536
PRINTS
PIRSF
SMART SM00014
SM00454
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8VCQ6
PhosphoSite PhosphoSite-Q8VCQ6
TrEMBL D3YV54
UniProt Splice Variant
Entrez Gene 208449
UniGene Mm.444083
RefSeq NP_001161997
MGI ID 2D8C
MGI Symbol Sgms1
OMIM
CCDS CCDS29750
HPRD
IMGT
EMBL AC113485 AC115752 AC124323 AC158130 AK076554 AK079254 AK082974 AK133967 AK146782 AK150272 AK151170 AK152312 AK153406 AK160539 AY509044 BC019443 BC085298
GenPept AAH19443 AAH85298 AAS90514 BAC36390 BAC37590 BAC38717 BAE21960 BAE27428 BAE29428 BAE30173 BAE31117 BAE31966 BAE35856