SAMD8
entrez
142891
canonical
uniprot
Q96LT4
canonical
ensembl
ENSG00000156671
resolver
ensp
ENSP00000361772
resolver
ensp
ENSP00000438042
resolver
ensp
ENSP00000533408
resolver
ensp
ENSP00000625880
resolver
ensp
ENSP00000789455
resolver
genesymbol
HEL-177
resolver
genesymbol
SAMD8
resolver
genesymbol_syn
HEL-S-181mP
resolver
hgnc
HGNC:26320
resolver
uniprot
Q5JSC5
resolver
uniprot
Q5JSC8
resolver
uniprot
Q66K52
resolver
uniprot
V9HVY4
resolver
uniprot_entry
SAMD8_HUMAN
resolver
uniprot_entry
V9HVY4_HUMAN
resolver
uniprot_sec
Q5JSC5
resolver
uniprot_sec
Q5JSC8
resolver
uniprot_sec
Q66K52
resolver
amino_acid_sequence
MAGPNQLCIRRWTTKHVAVWLKDEGFFEYVDILCNKHRLDGITLLTLTEYDLRSPPLEIKVLGDIKRLMLSVRKLQKIHIDVLEEMGYNSDSPMGSMTPFISALQSTDWLCNGELSHDCDGPITDLNSDQYQYMNGKNKHSVRRLDPEYWKTILSCIYVFIVFGFTSFIMVIVHERVPDMQTYPPLPDIFLDSVPRIPWAFAMTEVCGMILCYIWLLVLLLHKHRSILLRRLCSLMGTVFLLRCFTMFVTSLSVPGQHLQCTGKIYGSVWEKLHRAFAIWSGFGMTLTGVHTCGDYMFSGHTVVLTMLNFFVTEYTPRSWNFLHTLSWVLNLFGIFFILAAHEHYSIDVFIAFYITTRLFLYYHTLANTRAYQQSRRARIWFPMFSFFECNVNGTVPNEYCWPFSKPAIMKRLIG
uniprot
proteins
ec_number
2.7.8.-
uniprot
proteins
ec_number
3.1.4.62
uniprot
proteins
function
FUNCTION: Has phospholipase C (PLC) activity (PubMed:33621517, PubMed:34332077, PubMed:38388831). Shows specificity for phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine, PE), hydrolyzing PE to produce phosphoethanolamine and diacylglycerol (1,2-diacyl-sn-glycerol, DAG) (PubMed:34332077). This reaction might act as a regulatory switch to activate serine palmitoyltransferase (SPT) and promote sphingolipid metabolism (By similarity). Can also function as a ceramide phosphoethanolamine (N-acylsphingoid 1-phosphoethanolamine, CPE) synthase when intracellular ceramide levels are elevated (PubMed:19506037, PubMed:38388831). Binds the headgroup from PE, which is smaller and more hydrophilic than the phosphocholine headgroup transferred in the canonical sphingomyelin synthesis (SMS) reaction by SMS1 or SMS2, and transfers it on to the primary hydroxyl of a ceramide in the lumen of the endoplasmic reticulum (PubMed:19506037, PubMed:38388831). Plays a role as a ceramide sensor, helping to regulate ceramide homeostasis in the endoplasmic reticulum, which is critical for maintaining the integrity of the early secretory pathway (PubMed:19506037). {ECO:0000250|UniProtKB:Q9DA37, ECO:0000269|PubMed:19506037, ECO:0000269|PubMed:33621517, ECO:0000269|PubMed:34332077, ECO:0000269|PubMed:38388831}.
uniprot
proteins
mass_dalton
48321
uniprot
proteins
mutagenesis
MUTAGEN 348; /note="D->E: Abolishes CPE synthase activity."; /evidence="ECO:0000269|PubMed:19506037
uniprot
proteins
pathway_participation
PATHWAY: Sphingolipid metabolism. {ECO:0000305|PubMed:19506037}.; PATHWAY: Phospholipid metabolism. {ECO:0000305|PubMed:33621517, ECO:0000305|PubMed:34332077}.
uniprot
proteins
protein_family
Sphingomyelin synthase family
uniprot
proteins
pubmed
14685263
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19506037
uniprot
proteins
pubmed
33621517
uniprot
proteins
pubmed
34332077
uniprot
proteins
pubmed
38388831
uniprot
proteins
sequence_length
415
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:19506037}; Multi-pass membrane protein {ECO:0000269|PubMed:19506037}.
uniprot
proteins
transmembrane_region
TRANSMEM 153..173; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 201..221; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 232..252; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 277..297; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 322..342; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 347..367; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins