| Gene Symbol |
SGMS1
|
| Entrez Gene |
259230
|
| Alt Symbol |
MOB, MOB1, SMS1, TMEM23, hmob33
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
sphingomyelin synthase 1
|
| Other Description |
medulla oblongata-derived protein|phosphatidylcholine:ceramide cholinephosphotransferase 1|protein Mob|transmembrane protein 23
|
| Swissprots |
Q6EKK0 Q86VZ5 Q75SP1 Q68U43
|
| Accessions |
EAW80429 EAW80430 EAW80431 EAW80432 Q86VZ5 AB154421 BAD16809 AK026683 AK296233 BAG58954 AK311737 AY280959 AAP37279 AY312431 AAQ82051 AY332650 AAQ22363 AY364088 AAR13294 BC042899 AAH42899 BM141853 BM764008 BN000143 CAD79708 FM210200 CAR65042 FN870365 CBM41470 FN908045 CBM42040 FN908146 CBM43071 FN985166 FN994181 FR686760 CBW52777 Y14155 XM_005269675 XP_005269732 XM_011539582 XP_011537884 XM_011539583 XP_011537885 XM_011539584 XP_011537886 XM_011539585 XP_011537887 XR_945650 XR_945651 NM_147156 NP_671512
|
| 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:0000269|PubMed:14685263, ECO:0000269|PubMed:17449912}.
|
| Subcellular Location |
Golgi apparatus membrane {ECO:0000269|PubMed:14685263, ECO:0000269|PubMed:17449912, ECO:0000269|PubMed:18694848}; Multi-pass membrane protein {ECO:0000269|PubMed:14685263, ECO:0000269|PubMed:17449912, ECO:0000269|PubMed:18694848}.
|
| Tissue Specificity |
Brain, heart, kidney, liver, muscle and stomach. {ECO:0000269|PubMed:11841947, ECO:0000269|PubMed:14685263, ECO:0000269|PubMed:15315829}.
|
| Top Pathways |
Sphingolipid signaling pathway, Sphingolipid metabolism
|
