Names & Taxonomy

Uniprot ID:
Q96LT4
Entry Name:
SAMD8_HUMAN
Status:
reviewed
Protein Names:
Sphingomyelin 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)
Gene Names:
SAMD8
Gene Names Primary:
SAMD8
Organism:
Homo sapiens (Human)

Structure

Length:
415
Sequence:
MAGPNQLCIRRWTTKHVAVWLKDEGFFEYVDILCNKHRLDGITLLTLTEYDLRSPPLEIKVLGDIKRLMLSVRKLQKIHIDVLEEMGYNSDSPMGSMTPFISALQSTDWLCNGELSHDCDGPITDLNSDQYQYMNGKNKHSVRRLDPEYWKTILSCIYVFIVFGFTSFIMVIVHERVPDMQTYPPLPDIFLDSVPRIPWAFAMTEVCGMILCYIWLLVLLLHKHRSILLRRLCSLMGTVFLLRCFTMFVTSLSVPGQHLQCTGKIYGSVWEKLHRAFAIWSGFGMTLTGVHTCGDYMFSGHTVVLTMLNFFVTEYTPRSWNFLHTLSWVLNLFGIFFILAAHEHYSIDVFIAFYITTRLFLYYHTLANTRAYQQSRRARIWFPMFSFFECNVNGTVPNEYCWPFSKPAIMKRLIG
Proteomes:
UP000005640

Subcellular location

Subcellular Location:
Endoplasmic reticulum membrane

Function

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.
Active Site:
ACT_SITE 301 301
Gene Ontology Go:
integral component of endoplasmic reticulum membrane
integral component of membrane
transferase activity
ceramide biosynthetic process
regulation of ceramide biosynthetic process
sphingomyelin biosynthetic process
Gene Ontology Biological Process:
ceramide biosynthetic process
regulation of ceramide biosynthetic process
sphingomyelin biosynthetic process
Gene Ontology Molecular Function:
transferase activity
Gene Ontology Cellular Component:
integral component of endoplasmic reticulum membrane
integral component of membrane
Keywords:
Alternative splicing
Complete proteome
Endoplasmic reticulum
Lipid metabolism
Membrane
Reference proteome
Sphingolipid metabolism
Transferase
Transmembrane
Transmembrane helix

Publication

PubMed ID:
14702039 15164054 15489334 14685263 19506037