InnateDB Protein
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IDBP-532563.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Sgms1
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Protein Name
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sphingomyelin synthase 1
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Synonyms
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000119869
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InnateDB Gene
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IDBG-158524 (Sgms1)
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Protein Structure
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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}.
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Subcellular Localization |
Golgi apparatus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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Disease Associations |
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
0
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:2444110
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InterPro |
IPR001660
Sterile alpha motif domain
IPR013761
Sterile alpha motif/pointed domain
IPR021129
Sterile alpha motif, type 1
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PFAM |
PF00536
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PRINTS |
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PIRSF |
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SMART |
SM00454
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TIGRFAMs |
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Modification |
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SwissProt |
Q8VCQ6
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PhosphoSite |
PhosphoSite-Q8VCQ6
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TrEMBL |
D3YV54
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UniProt Splice Variant |
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Entrez Gene |
208449
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UniGene |
Mm.444083
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RefSeq |
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MGI ID |
2D8C
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MGI Symbol |
Sgms1
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OMIM |
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CCDS |
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HPRD |
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IMGT |
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EMBL |
AC113485
AC115752
AC124323
AC158130
AK076554
AK079254
AK082974
AK133967
AK146782
AK150272
AK151170
AK152312
AK153406
AK160539
AY509044
BC019443
BC085298
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GenPept |
AAH19443
AAH85298
AAS90514
BAC36390
BAC37590
BAC38717
BAE21960
BAE27428
BAE29428
BAE30173
BAE31117
BAE31966
BAE35856
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