InnateDB Protein
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IDBP-74411.6
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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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Homo sapiens
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Ensembl Protein
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ENSP00000355235
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InnateDB Gene
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IDBG-74409 (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 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}.
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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}.
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Disease Associations |
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Tissue Specificity |
Brain, heart, kidney, liver, muscle and stomach. {ECO:0000269PubMed:11841947, ECO:0000269PubMed:14685263, ECO:0000269PubMed:15315829}.
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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 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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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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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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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 |
Q86VZ5
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PhosphoSite |
PhosphoSite-Q86VZ5
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TrEMBL |
C0MHM2
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UniProt Splice Variant |
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Entrez Gene |
259230
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UniGene |
Hs.654698
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RefSeq |
XP_006717811
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HUGO |
HGNC:29799
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OMIM |
611573
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CCDS |
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HPRD |
18203
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IMGT |
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EMBL |
AB154421
AC069547
AK026683
AL117341
AL596137
AY280959
AY312431
AY332650
AY364088
BC042899
BN000143
FM210200
FN870365
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GenPept |
AAH42899
AAP37279
AAQ22363
AAQ82051
AAR13294
BAD16809
CAD79708
CAR65042
CBM41470
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