| Gene Symbol |
SAMD8
|
| Entrez Gene |
142891
|
| Alt Symbol |
HEL-177, SMSr
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
sterile alpha motif domain containing 8
|
| Other Description |
CPE synthase|SAM domain-containing protein 8|ceramide phosphoethanolamine synthase|epididymis luminal protein 177|sphingomyelin synthase related|sphingomyelin synthase-related protein 1|sterile alpha motif domain-containing protein 8
|
| Swissprots |
Q66K52 Q5JSC5 Q5JSC8 Q96LT4
|
| Accessions |
EAW54565 EAW54566 EAW54567 EAW54568 Q96LT4 AK057811 BAB71586 BC080593 AAH80593 BC140219 AAI40220 BC146556 AAI46557 EU668332 ACF94485 XM_005269541 XP_005269598 XM_011539311 XP_011537613 XM_011539312 XP_011537614 XM_011539313 XP_011537615 NM_001174156 NP_001167627 NM_144660 NP_653261
|
| Function |
Sphingomyelin synthases synthesize sphingolipids through transfer of a phosphatidyl head group on to the primary hydroxyl of ceramide. SAMD8 is an endoplasmic reticulum (ER) transferase that has no sphingomyelin synthase activity but can convert phosphatidylethanolamine (PE) and ceramide to ceramide phosphoethanolamine (CPE) albeit with low product yield. Appears to operate as a ceramide sensor to control ceramide homeostasis in the endoplasmic reticulum rather than a converter of ceramides. Seems to be critical for the integrity of the early secretory pathway. {ECO:0000269|PubMed:19506037}.
|
| Subcellular Location |
Endoplasmic reticulum membrane {ECO:0000269|PubMed:19506037}; Multi-pass membrane protein {ECO:0000269|PubMed:19506037}.
|