SAMD8 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_2000303Biological processregulation of ceramide biosynthetic process
GO_0006686Biological processsphingomyelin biosynthetic process
GO_1905373Biological processceramide phosphoethanolamine biosynthetic process
GO_0046513Biological processceramide biosynthetic process
GO_0000139Cellular componentGolgi membrane
GO_0005783Cellular componentendoplasmic reticulum
GO_0005829Cellular componentcytosol
GO_0005886Cellular componentplasma membrane
GO_0016020Cellular componentmembrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0047493Molecular functionceramide cholinephosphotransferase activity
GO_0002950Molecular functionceramide phosphoethanolamine synthase activity
GO_0033188Molecular functionsphingomyelin synthase activity
GO_0003674Molecular functionmolecular_function

IV. Literature review

[source]
Gene nameSAMD8
Protein nameSphingomyelin synthase-related protein 1 (SMSr) (EC 2.7.8.-) (Ceramide phosphoethanolamine synthase) (CPE synthase) (Sterile alpha motif domain-containing protein 8) (SAM domain-containing protein 8)
Sterile alpha motif domain containing 8
Synonyms
DescriptionFUNCTION: 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. .

AccessionsENST00000649316.2
ENST00000671800.1 [Q96LT4-1]
Q5JSC9
A0A5F9ZGS6
ENST00000671730.1
ENST00000542569.6 [Q96LT4-1]
A0A3B3IT94
Q96LT4
ENST00000372687.4 [Q96LT4-2]
ENST00000447533.5