SGMS1
entrez
259230
canonical
uniprot
Q86VZ5
canonical
ensembl
ENSG00000198964
resolver
ensp
ENSP00000354829
resolver
ensp
ENSP00000406795
resolver
ensp
ENSP00000562845
resolver
ensp
ENSP00000633977
resolver
ensp
ENSP00000668016
resolver
ensp
ENSP00000685932
resolver
ensp
ENSP00000781282
resolver
enst
ENST00000429490
resolver
genesymbol
SGMS1
resolver
genesymbol_syn
MOB
resolver
genesymbol_syn
SMS1
resolver
genesymbol_syn
TMEM23
resolver
hgnc
HGNC:29799
resolver
uniprot
D3DWC4
resolver
uniprot
E6ZCI6
resolver
uniprot
F6VU21
resolver
uniprot
Q68U43
resolver
uniprot
Q6EKK0
resolver
uniprot
Q75SP1
resolver
uniprot_entry
E6ZCI6_HUMAN
resolver
uniprot_entry
F6VU21_HUMAN
resolver
uniprot_entry
SMS1_HUMAN
resolver
uniprot_sec
D3DWC4
resolver
uniprot_sec
Q68U43
resolver
uniprot_sec
Q6EKK0
resolver
uniprot_sec
Q75SP1
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by bacterial PC-phospholipase C inhibitor D609. {ECO:0000269|PubMed:14685263}.
uniprot
proteins
amino_acid_sequence
MKEVVYWSPKKVADWLLENAMPEYCEPLEHFTGQDLINLTQEDFKKPPLCRVSSDNGQRLLDMIETLKMEHHLEAHKNGHANGHLNIGVDIPTPDGSFSIKIKPNGMPNGYRKEMIKIPMPELERSQYPMEWGKTFLAFLYALSCFVLTTVMISVVHERVPPKEVQPPLPDTFFDHFNRVQWAFSICEINGMILVGLWLIQWLLLKYKSIISRRFFCIVGTLYLYRCITMYVTTLPVPGMHFNCSPKLFGDWEAQLRRIMKLIAGGGLSITGSHNMCGDYLYSGHTVMLTLTYLFIKEYSPRRLWWYHWICWLLSVVGIFCILLAHDHYTVDVVVAYYITTRLFWWYHTMANQQVLKEASQMNLLARVWWYRPFQYFEKNVQGIVPRSYHWPFPWPVVHLSRQVKYSRLVNDT
uniprot
proteins
ec_number
2.7.8.27
uniprot
proteins
function
FUNCTION: Major sphingomyelin synthase at the Golgi apparatus (PubMed:14685263, PubMed:17449912). Catalyzes the reversible transfer of phosphocholine moiety in sphingomyelin biosynthesis: in the forward reaction transfers phosphocholine head group of phosphatidylcholine (PC) on to ceramide (CER) to form ceramide phosphocholine (sphingomyelin, SM) and diacylglycerol (DAG) as by-product, and in the reverse reaction transfers phosphocholine from SM to DAG to form PC and CER. The direction of the reaction depends on the levels of CER and DAG in Golgi membranes (PubMed:14685263, PubMed:14976195, PubMed:17449912, PubMed:17982138, PubMed:19454763). Converts the newly synthesized CER, that is transported from the endoplasmic reticulum to the trans-Golgi by the Cer transport protein (CERT), to SM (PubMed:30242129). Can form a heteromeric complex with glucosylceramide synthase (GCS) increasing SMS activity and reducing glucosylceramide synthesis, a critical mechanism that controls the metabolic fate of CER in the Golgi (PubMed:30242129). Does not use free phosphorylcholine or CDP-choline as donor (PubMed:14685263, PubMed:14976195). Can also transfer phosphoethanolamine head group of phosphatidylethanolamine (PE) on to CER to form ceramide phosphoethanolamine (CPE) (By similarity). Regulates receptor-mediated signal transduction via mitogenic DAG and proapoptotic CER, as well as via SM, a structural component of membrane rafts that serve as platforms for signal transduction and protein sorting (PubMed:14976195, PubMed:17449912, PubMed:17982138). Plays a role in secretory transport via regulation of DAG pool at the Golgi apparatus and its downstream effects on PRKD1 (PubMed:18370930, PubMed:21980337). {ECO:0000250|UniProtKB:Q8VCQ6, ECO:0000269|PubMed:14685263, ECO:0000269|PubMed:14976195, ECO:0000269|PubMed:17449912, ECO:0000269|PubMed:17982138, ECO:0000269|PubMed:18370930, ECO:0000269|PubMed:19454763, ECO:0000269|PubMed:21980337, ECO:0000269|PubMed:30242129}.
uniprot
proteins
mass_dalton
48617
uniprot
proteins
mutagenesis
MUTAGEN 283; /note="S->A: Completely abolishes enzyme activity. No change in subcellular location."; /evidence="ECO:0000269|PubMed:18694848"; MUTAGEN 285; /note="H->A: Completely abolishes enzyme activity. No change in subcellular location."; /evidence="ECO:0000269|PubMed:18694848"; MUTAGEN 328; /note="H->A: Completely abolishes enzyme activity. No change in subcellular location."; /evidence="ECO:0000269|PubMed:18694848"; MUTAGEN 332; /note="D->A: Completely abolishes enzyme activity. No change in subcellular location."; /evidence="ECO:0000269|PubMed:18694848
uniprot
proteins
pathway_participation
PATHWAY: Sphingolipid metabolism. {ECO:0000269|PubMed:17982138}.
uniprot
proteins
protein_family
Sphingomyelin synthase family
uniprot
proteins
pubmed
11841947
uniprot
proteins
pubmed
14685263
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14976195
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15315829
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16508036
uniprot
proteins
pubmed
17449912
uniprot
proteins
pubmed
17982138
uniprot
proteins
pubmed
18370930
uniprot
proteins
pubmed
18694848
uniprot
proteins
pubmed
19454763
uniprot
proteins
pubmed
21980337
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
30242129
uniprot
proteins
sequence_length
413
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:14685263, ECO:0000269|PubMed:17449912, ECO:0000269|PubMed:18694848}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 136..156; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 184..204; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 215..235; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 276..296; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 304..324; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 330..347; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins