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Protein

Phosphatidylcholine:ceramide cholinephosphotransferase 1

Gene

SGMS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Golgi apparatus SMS1 directly and specifically recognizes the choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Major form in macrophages. Required for cell growth in certain cell types such as HeLa cells. Suppresses BAX-mediated apoptosis and also prevents cell death in response to stimuli such as hydrogen peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids. May protect against cell death by reversing the stress-inducible increase in levels of proapoptotic ceramide.2 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 lipoprotein atherogenic potential.

Catalytic activityi

A ceramide + a phosphatidylcholine = a sphingomyelin + a 1,2-diacyl-sn-glycerol.

Enzyme regulationi

Inhibited by bacterial PC-phospholipase C inhibitor D609.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei2851 Publication1
Active sitei3281 Publication1
Active sitei3321 Publication1

GO - Molecular functioni

  • ceramide cholinephosphotransferase activity Source: UniProtKB
  • ceramide phosphoethanolamine synthase activity Source: MGI
  • kinase activity Source: UniProtKB-KW
  • sphingomyelin synthase activity Source: HGNC

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • ceramide biosynthetic process Source: MGI
  • regulation of intrinsic apoptotic signaling pathway Source: HGNC
  • sphingolipid biosynthetic process Source: Reactome
  • sphingomyelin biosynthetic process Source: UniProtKB

Keywordsi

Molecular functionKinase, Transferase
Biological processApoptosis, Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

BRENDAi2.7.8.27 2681
ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis

Chemistry databases

SwissLipidsiSLP:000000171

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylcholine:ceramide cholinephosphotransferase 1 (EC:2.7.8.27)
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
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000198964.13
HGNCiHGNC:29799 SGMS1
MIMi611573 gene
neXtProtiNX_Q86VZ5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Transmembranei184 – 204HelicalSequence analysisAdd BLAST21
Transmembranei215 – 235HelicalSequence analysisAdd BLAST21
Transmembranei276 – 296HelicalSequence analysisAdd BLAST21
Transmembranei304 – 324HelicalSequence analysisAdd BLAST21
Topological domaini325 – 413CytoplasmicSequence analysisAdd BLAST89

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi283S → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication1
Mutagenesisi285H → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication1
Mutagenesisi328H → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication1
Mutagenesisi332D → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication1

Organism-specific databases

DisGeNETi259230
OpenTargetsiENSG00000198964
PharmGKBiPA162403042

Chemistry databases

ChEMBLiCHEMBL3611965
GuidetoPHARMACOLOGYi2520

Polymorphism and mutation databases

BioMutaiSGMS1
DMDMi44888473

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002210681 – 413Phosphatidylcholine:ceramide cholinephosphotransferase 1Add BLAST413

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei8PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86VZ5
MaxQBiQ86VZ5
PaxDbiQ86VZ5
PeptideAtlasiQ86VZ5
PRIDEiQ86VZ5

PTM databases

iPTMnetiQ86VZ5
PhosphoSitePlusiQ86VZ5

Expressioni

Tissue specificityi

Brain, heart, kidney, liver, muscle and stomach.3 Publications

Gene expression databases

BgeeiENSG00000198964
CleanExiHS_SGMS1

Organism-specific databases

HPAiHPA045191

Interactioni

Protein-protein interaction databases

BioGridi1292274 interactors.
IntActiQ86VZ5 1 interactor.
STRINGi9606.ENSP00000354829

Chemistry databases

BindingDBiQ86VZ5

Structurei

3D structure databases

ProteinModelPortaliQ86VZ5
SMRiQ86VZ5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 70SAMPROSITE-ProRule annotationCuratedAdd BLAST64

Sequence similaritiesi

Belongs to the sphingomyelin synthase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3058 Eukaryota
ENOG410XNSC LUCA
GeneTreeiENSGT00390000001630
HOGENOMiHOG000233822
HOVERGENiHBG048216
InParanoidiQ86VZ5
KOiK04714
OMAiITGSHTM
OrthoDBiEOG091G0J6C
PhylomeDBiQ86VZ5
TreeFamiTF314547

Family and domain databases

InterProiView protein in InterPro
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR025749 Sphingomyelin_synth-like_dom
PfamiView protein in Pfam
PF14360 PAP2_C, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
PROSITEiView protein in PROSITE
PS50105 SAM_DOMAIN, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86VZ5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:413
Mass (Da):48,617
Last modified:March 28, 2018 - v3
Checksum:i6E79AED84F4BFD21
GO
Isoform 2 (identifier: Q86VZ5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-199: Missing.
     200-208: IQWLLLKYK → MTRMFLNNP

Show »
Length:214
Mass (Da):25,602
Checksum:i1683928AB57C2FB2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti162P → L in AAQ82051 (Ref. 3) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0272231 – 199Missing in isoform 2. 1 PublicationAdd BLAST199
Alternative sequenceiVSP_027224200 – 208IQWLLLKYK → MTRMFLNNP in isoform 2. 1 Publication9

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
RefSeqiNP_671512.1, NM_147156.3
XP_005269732.1, XM_005269675.1
XP_011537884.1, XM_011539582.2
XP_011537885.1, XM_011539583.2
UniGeneiHs.654698

Genome annotation databases

EnsembliENST00000361781; ENSP00000354829; ENSG00000198964
GeneIDi259230
KEGGihsa:259230

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiSMS1_HUMAN
AccessioniPrimary (citable) accession number: Q86VZ5
Secondary accession number(s): D3DWC4
, Q68U43, Q6EKK0, Q75SP1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 28, 2018
Last modified: April 25, 2018
This is version 133 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome