UniProtKB - Q86VZ5 (SMS1_HUMAN)
Protein
Phosphatidylcholine:ceramide cholinephosphotransferase 1
Gene
SGMS1
Organism
Homo sapiens (Human)
Status
Functioni
Major sphingomyelin synthase at the Golgi apparatus (PubMed:17449912, PubMed:14685263). 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:17449912, PubMed:14976195, PubMed:17982138, PubMed:19454763). Does not use free phosphorylcholine or CDP-choline as donor (PubMed:14976195, PubMed:14685263). 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).7 Publications
Miscellaneous
Overexpression of the human protein in mouse causes increased non-HDL-sphingomyelin and non-HDL cholesterol levels, decreased HDL-sphingomyelin and HDL-cholesterol levels and increases the atherogenic potential of non-HDL lipoprotein particles.
Catalytic activityi
- a 1,2-diacyl-sn-glycero-3-phosphocholine + an N-acylsphing-4-enine = a 1,2-diacyl-sn-glycerol + a sphingomyelin5 PublicationsEC:2.7.8.275 Publications
Activity regulationi
Inhibited by bacterial PC-phospholipase C inhibitor D609.1 Publication
: Sphingolipid metabolism Pathwayi
This protein is involved in Sphingolipid metabolism.1 PublicationView all proteins of this organism that are known to be involved in Sphingolipid metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 285 | 1 Publication | 1 | |
Active sitei | 328 | 1 Publication | 1 | |
Active sitei | 332 | 1 Publication | 1 |
GO - Molecular functioni
- ceramide cholinephosphotransferase activity Source: UniProtKB
- ceramide phosphoethanolamine synthase activity Source: MGI
- kinase activity Source: UniProtKB-KW
- sphingomyelin synthase activity Source: UniProtKB
GO - Biological processi
- apoptotic process Source: UniProtKB-KW
- cellular response to lipopolysaccharide Source: Ensembl
- cellular response to tumor necrosis factor Source: Ensembl
- ceramide biosynthetic process Source: MGI
- inflammatory response Source: Ensembl
- positive regulation of gene expression Source: Ensembl
- regulation of intrinsic apoptotic signaling pathway Source: HGNC-UCL
- sphingolipid biosynthetic process Source: Reactome
- sphingomyelin biosynthetic process Source: UniProtKB
Keywordsi
Molecular function | Kinase, Transferase |
Biological process | Apoptosis, Lipid metabolism, Sphingolipid metabolism |
Enzyme and pathway databases
BRENDAi | 2.7.8.27, 2681 |
PathwayCommonsi | Q86VZ5 |
Reactomei | R-HSA-1660661, Sphingolipid de novo biosynthesis |
Chemistry databases
SwissLipidsi | SLP:000000171 |
Names & Taxonomyi
Protein namesi | Recommended name: Phosphatidylcholine:ceramide cholinephosphotransferase 1 (EC:2.7.8.275 Publications)Alternative name(s): Medulla oblongata-derived protein Short name: Protein Mob Sphingomyelin synthase 1 Transmembrane protein 23 |
Gene namesi | Name:SGMS1 Synonyms:MOB, SMS1, TMEM23 |
Organismi | Homo sapiens (Human)Imported |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29799, SGMS1 |
MIMi | 611573, gene |
neXtProti | NX_Q86VZ5 |
VEuPathDBi | HostDB:ENSG00000198964.13 |
Subcellular locationi
Golgi apparatus
- Golgi apparatus membrane 3 Publications; Multi-pass membrane protein Sequence analysis
Endoplasmic reticulum
- endoplasmic reticulum Source: HGNC-UCL
- integral component of endoplasmic reticulum membrane Source: GO_Central
Golgi apparatus
- Golgi membrane Source: Reactome
- Golgi trans cisterna Source: MGI
- integral component of Golgi membrane Source: UniProtKB
Nucleus
- nucleus Source: HGNC-UCL
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: HGNC-UCL
Other locations
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 136 – 156 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 184 – 204 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 215 – 235 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 276 – 296 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 304 – 324 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 325 – 413 | CytoplasmicSequence analysisAdd BLAST | 89 |
Keywords - Cellular componenti
Golgi apparatus, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 283 | S → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication | 1 | |
Mutagenesisi | 285 | H → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication | 1 | |
Mutagenesisi | 328 | H → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication | 1 | |
Mutagenesisi | 332 | D → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 259230 |
OpenTargetsi | ENSG00000198964 |
PharmGKBi | PA162403042 |
Miscellaneous databases
Pharosi | Q86VZ5, Tchem |
Chemistry databases
ChEMBLi | CHEMBL3611965 |
GuidetoPHARMACOLOGYi | 2520 |
Genetic variation databases
BioMutai | SGMS1 |
DMDMi | 44888473 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000221068 | 1 – 413 | Phosphatidylcholine:ceramide cholinephosphotransferase 1Add BLAST | 413 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 8 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q86VZ5 |
jPOSTi | Q86VZ5 |
MassIVEi | Q86VZ5 |
MaxQBi | Q86VZ5 |
PaxDbi | Q86VZ5 |
PeptideAtlasi | Q86VZ5 |
PRIDEi | Q86VZ5 |
ProteomicsDBi | 12771 70096 [Q86VZ5-1] 70097 [Q86VZ5-2] |
PTM databases
iPTMneti | Q86VZ5 |
PhosphoSitePlusi | Q86VZ5 |
Expressioni
Tissue specificityi
Brain, heart, kidney, liver, muscle and stomach.3 Publications
Gene expression databases
Bgeei | ENSG00000198964, Expressed in adrenal tissue and 237 other tissues |
ExpressionAtlasi | Q86VZ5, baseline and differential |
Interactioni
Protein-protein interaction databases
BioGRIDi | 129227, 11 interactors |
IntActi | Q86VZ5, 1 interactor |
STRINGi | 9606.ENSP00000354829 |
Miscellaneous databases
RNActi | Q86VZ5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 7 – 70 | SAMPROSITE-ProRule annotationCuratedAdd BLAST | 64 |
Sequence similaritiesi
Belongs to the sphingomyelin synthase family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3058, Eukaryota |
GeneTreei | ENSGT00940000158306 |
InParanoidi | Q86VZ5 |
OMAi | VPEYCEP |
OrthoDBi | 599210at2759 |
PhylomeDBi | Q86VZ5 |
TreeFami | TF314547 |
Family and domain databases
Gene3Di | 1.10.150.50, 1 hit |
InterProi | View protein in InterPro IPR001660, SAM IPR013761, SAM/pointed_sf IPR025749, Sphingomyelin_synth-like_dom |
Pfami | View protein in Pfam PF14360, PAP2_C, 1 hit |
SUPFAMi | SSF47769, SSF47769, 1 hit |
PROSITEi | View protein in PROSITE PS50105, SAM_DOMAIN, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q86VZ5-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKEVVYWSPK KVADWLLENA MPEYCEPLEH FTGQDLINLT QEDFKKPPLC
60 70 80 90 100
RVSSDNGQRL LDMIETLKME HHLEAHKNGH ANGHLNIGVD IPTPDGSFSI
110 120 130 140 150
KIKPNGMPNG YRKEMIKIPM PELERSQYPM EWGKTFLAFL YALSCFVLTT
160 170 180 190 200
VMISVVHERV PPKEVQPPLP DTFFDHFNRV QWAFSICEIN GMILVGLWLI
210 220 230 240 250
QWLLLKYKSI ISRRFFCIVG TLYLYRCITM YVTTLPVPGM HFNCSPKLFG
260 270 280 290 300
DWEAQLRRIM KLIAGGGLSI TGSHNMCGDY LYSGHTVMLT LTYLFIKEYS
310 320 330 340 350
PRRLWWYHWI CWLLSVVGIF CILLAHDHYT VDVVVAYYIT TRLFWWYHTM
360 370 380 390 400
ANQQVLKEAS QMNLLARVWW YRPFQYFEKN VQGIVPRSYH WPFPWPVVHL
410
SRQVKYSRLV NDT
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE6ZCI6 | E6ZCI6_HUMAN | Phosphatidylcholine:ceramide cholin... | SGMS1 | 219 | Annotation score: | ||
C0MHM2 | C0MHM2_HUMAN | Phosphatidylcholine:ceramide cholin... | SGMS1 | 241 | Annotation score: | ||
R4GNI5 | R4GNI5_HUMAN | Phosphatidylcholine:ceramide cholin... | SGMS1 | 35 | Annotation score: | ||
U3KQ11 | U3KQ11_HUMAN | Phosphatidylcholine:ceramide cholin... | SGMS1 | 12 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 162 | P → L in AAQ82051 (Ref. 3) Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_027223 | 1 – 199 | Missing in isoform 2. 1 PublicationAdd BLAST | 199 | |
Alternative sequenceiVSP_027224 | 200 – 208 | IQWLLLKYK → MTRMFLNNP in isoform 2. 1 Publication | 9 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB154421 mRNA Translation: BAD16809.1 AY280959 mRNA Translation: AAP37279.1 AY312431 mRNA Translation: AAQ82051.1 AK026683 mRNA No translation available. CH471142 Genomic DNA Translation: EAW80430.1 CH471142 Genomic DNA Translation: EAW80429.1 CH471142 Genomic DNA Translation: EAW80431.1 CH471142 Genomic DNA Translation: EAW80432.1 AC069547 Genomic DNA No translation available. AL117341 Genomic DNA No translation available. AL596137 Genomic DNA No translation available. BC042899 mRNA Translation: AAH42899.1 AY364088 mRNA Translation: AAR13294.1 AY332650 mRNA Translation: AAQ22363.1 BN000143 mRNA Translation: CAD79708.1 |
CCDSi | CCDS7240.1 [Q86VZ5-1] |
RefSeqi | NP_671512.1, NM_147156.3 [Q86VZ5-1] XP_005269732.1, XM_005269675.1 [Q86VZ5-1] XP_011537884.1, XM_011539582.2 XP_011537885.1, XM_011539583.2 [Q86VZ5-1] |
Genome annotation databases
Ensembli | ENST00000361781; ENSP00000354829; ENSG00000198964 [Q86VZ5-1] |
GeneIDi | 259230 |
KEGGi | hsa:259230 |
UCSCi | uc001jje.4, human |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB154421 mRNA Translation: BAD16809.1 AY280959 mRNA Translation: AAP37279.1 AY312431 mRNA Translation: AAQ82051.1 AK026683 mRNA No translation available. CH471142 Genomic DNA Translation: EAW80430.1 CH471142 Genomic DNA Translation: EAW80429.1 CH471142 Genomic DNA Translation: EAW80431.1 CH471142 Genomic DNA Translation: EAW80432.1 AC069547 Genomic DNA No translation available. AL117341 Genomic DNA No translation available. AL596137 Genomic DNA No translation available. BC042899 mRNA Translation: AAH42899.1 AY364088 mRNA Translation: AAR13294.1 AY332650 mRNA Translation: AAQ22363.1 BN000143 mRNA Translation: CAD79708.1 |
CCDSi | CCDS7240.1 [Q86VZ5-1] |
RefSeqi | NP_671512.1, NM_147156.3 [Q86VZ5-1] XP_005269732.1, XM_005269675.1 [Q86VZ5-1] XP_011537884.1, XM_011539582.2 XP_011537885.1, XM_011539583.2 [Q86VZ5-1] |
3D structure databases
SMRi | Q86VZ5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 129227, 11 interactors |
IntActi | Q86VZ5, 1 interactor |
STRINGi | 9606.ENSP00000354829 |
Chemistry databases
ChEMBLi | CHEMBL3611965 |
GuidetoPHARMACOLOGYi | 2520 |
SwissLipidsi | SLP:000000171 |
PTM databases
iPTMneti | Q86VZ5 |
PhosphoSitePlusi | Q86VZ5 |
Genetic variation databases
BioMutai | SGMS1 |
DMDMi | 44888473 |
Proteomic databases
EPDi | Q86VZ5 |
jPOSTi | Q86VZ5 |
MassIVEi | Q86VZ5 |
MaxQBi | Q86VZ5 |
PaxDbi | Q86VZ5 |
PeptideAtlasi | Q86VZ5 |
PRIDEi | Q86VZ5 |
ProteomicsDBi | 12771 70096 [Q86VZ5-1] 70097 [Q86VZ5-2] |
Protocols and materials databases
Antibodypediai | 27870, 193 antibodies |
Genome annotation databases
Ensembli | ENST00000361781; ENSP00000354829; ENSG00000198964 [Q86VZ5-1] |
GeneIDi | 259230 |
KEGGi | hsa:259230 |
UCSCi | uc001jje.4, human |
Organism-specific databases
CTDi | 259230 |
DisGeNETi | 259230 |
GeneCardsi | SGMS1 |
HGNCi | HGNC:29799, SGMS1 |
MIMi | 611573, gene |
neXtProti | NX_Q86VZ5 |
OpenTargetsi | ENSG00000198964 |
PharmGKBi | PA162403042 |
VEuPathDBi | HostDB:ENSG00000198964.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3058, Eukaryota |
GeneTreei | ENSGT00940000158306 |
InParanoidi | Q86VZ5 |
OMAi | VPEYCEP |
OrthoDBi | 599210at2759 |
PhylomeDBi | Q86VZ5 |
TreeFami | TF314547 |
Enzyme and pathway databases
BRENDAi | 2.7.8.27, 2681 |
PathwayCommonsi | Q86VZ5 |
Reactomei | R-HSA-1660661, Sphingolipid de novo biosynthesis |
Miscellaneous databases
BioGRID-ORCSi | 259230, 26 hits in 996 CRISPR screens |
ChiTaRSi | SGMS1, human |
GeneWikii | SGMS1 |
GenomeRNAii | 259230 |
Pharosi | Q86VZ5, Tchem |
PROi | PR:Q86VZ5 |
RNActi | Q86VZ5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000198964, Expressed in adrenal tissue and 237 other tissues |
ExpressionAtlasi | Q86VZ5, baseline and differential |
Family and domain databases
Gene3Di | 1.10.150.50, 1 hit |
InterProi | View protein in InterPro IPR001660, SAM IPR013761, SAM/pointed_sf IPR025749, Sphingomyelin_synth-like_dom |
Pfami | View protein in Pfam PF14360, PAP2_C, 1 hit |
SUPFAMi | SSF47769, SSF47769, 1 hit |
PROSITEi | View protein in PROSITE PS50105, SAM_DOMAIN, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SMS1_HUMAN | |
Accessioni | Q86VZ5Primary (citable) accession number: Q86VZ5 Secondary accession number(s): D3DWC4 Q75SP1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 1, 2004 |
Last sequence update: | March 28, 2018 | |
Last modified: | April 7, 2021 | |
This is version 158 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families