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Protein

Phosphatidylcholine:ceramide cholinephosphotransferase 1

Gene

Sgms1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 (By similarity). 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.By similarity2 Publications

Catalytic activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei291By similarity1
Active sitei334By similarity1
Active sitei338By similarity1

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
  • cell growth Source: HGNC
  • cellular response to lipopolysaccharide Source: Ensembl
  • cellular response to tumor necrosis factor Source: Ensembl
  • ceramide biosynthetic process Source: MGI
  • inflammatory response Source: Ensembl
  • negative regulation of extrinsic apoptotic signaling pathway Source: MGI
  • positive regulation of gene expression Source: Ensembl
  • sphingomyelin biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Biological processi

Apoptosis, Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

BRENDAi2.7.8.27. 3474.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylcholine:ceramide cholinephosphotransferase 1 (EC:2.7.8.27)
Alternative name(s):
Protein Mob
Sphingomyelin synthase 1
Transmembrane protein 23
Gene namesi
Name:Sgms1
Synonyms:Tmem23
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 19

Organism-specific databases

MGIiMGI:2444110. Sgms1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei142 – 162HelicalSequence analysisAdd BLAST21
Transmembranei190 – 210HelicalSequence analysisAdd BLAST21
Transmembranei221 – 241HelicalSequence analysisAdd BLAST21
Transmembranei282 – 302HelicalSequence analysisAdd BLAST21
Transmembranei310 – 330HelicalSequence analysisAdd BLAST21
Topological domaini331 – 419CytoplasmicSequence analysisAdd BLAST89

GO - Cellular componenti

  • endoplasmic reticulum Source: HGNC
  • Golgi trans cisterna Source: MGI
  • integral component of endoplasmic reticulum membrane Source: GO_Central
  • integral component of Golgi membrane Source: UniProtKB
  • integral component of plasma membrane Source: GO_Central
  • membrane Source: MGI
  • nucleus Source: HGNC
  • plasma membrane Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Disruption phenotypei

Null mice have hearing impairments with stria vascularis (SV) in these mice exhibiting atrophy and disorganized marginal cells resulting in significantly smaller endocochlear potentials (EPs). These decreased EPs, together with abnormal KCNQ1 expression patterns, increase with age. There is a decrease in plasma, liver, and macrophage sphingomyelin (59%, 45%, and 54%, respectively) and a dramatic increase in glycosphingolipids. No change in ceramide, total cholesterol, phospholipids nor triglycerides levels. Diminished macrophage MAP kinase and NFKB1 activation is observed. Atherosclerosis in SMS1(-/-)/LDLR(-/-) mice is significantly decreased.2 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002210691 – 419Phosphatidylcholine:ceramide cholinephosphotransferase 1Add BLAST419

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei14PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8VCQ6.
PRIDEiQ8VCQ6.

PTM databases

PhosphoSitePlusiQ8VCQ6.

Expressioni

Tissue specificityi

Isoform 1 is widely expressed, isoform 2 shows a more narrow distribution and isoform 3 is detected only in testis and heart.1 Publication

Inductioni

Isoform 1 and isoform 2 are induced by TNF-alpha.1 Publication

Gene expression databases

BgeeiENSMUSG00000040451.
CleanExiMM_SGMS1.
ExpressionAtlasiQ8VCQ6. baseline and differential.
GenevisibleiQ8VCQ6. MM.

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000097114.

Structurei

Secondary structure

1419
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi17 – 24Combined sources8
Turni28 – 36Combined sources9
Helixi39 – 43Combined sources5
Helixi47 – 51Combined sources5
Beta strandi52 – 57Combined sources6
Turni60 – 63Combined sources4
Helixi64 – 76Combined sources13

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D8CNMR-A1-84[»]
ProteinModelPortaliQ8VCQ6.
SMRiQ8VCQ6.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8VCQ6.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini13 – 76SAMPROSITE-ProRule annotationCuratedAdd BLAST64

Sequence similaritiesi

Belongs to the sphingomyelin synthase family.Curated
Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3058. Eukaryota.
ENOG410XNSC. LUCA.
GeneTreeiENSGT00390000001630.
HOGENOMiHOG000233822.
HOVERGENiHBG048216.
InParanoidiQ8VCQ6.
KOiK04714.
OMAiWWYHWLC.
OrthoDBiEOG091G0J6C.
PhylomeDBiQ8VCQ6.
TreeFamiTF314547.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
IPR025749. Sphingomyelin_synth-like_dom.
[Graphical view]
PfamiPF14360. PAP2_C. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8VCQ6-1) [UniParc]FASTAAdd to basket
Also known as: SMS1-alpha

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
MLSARTMKEV VYWSPKKVAD WLLENAMPEY CEPLEHFTGQ DLINLTQEDF
60 70 80 90 100
KKPPLYRVSS DNGQRLLDMI ETLKMEHHME AHKNGHANGH LSIGVDIPNP
110 120 130 140 150
DGSFSIKTKP NGMPNGFRKE MIKIPMPEPE RSQYPMEWGK TFLAFLYALS
160 170 180 190 200
CFVLTTVMIS VVHERVPPKE VQPPLPDTFF DHFNRVQWAF SICEINGMIL
210 220 230 240 250
VGLWLFQWLL LKYKSIISRR FFCIVGTLYL YRCITMYVTT LPVPGMHFNC
260 270 280 290 300
SPKLFGDWEA QVRRIMKLIA GGGLSITGSH NMCGDYLYSG HTVMLTLTYL
310 320 330 340 350
FIKEYSPRRL WWYHWICWLL SVVGIFCILL AHDHYTVDVV VAYYITTRLF
360 370 380 390 400
WWYHTMANQQ VLKEASQMNL LARVWWYRPF QYFEKNVQGI VPRSYHWPFP
410
WPVVHLSRQV KYSRLVNDT
Length:419
Mass (Da):49,317
Last modified:February 16, 2004 - v2
Checksum:i554CC26609F5F345
GO
Isoform 2 (identifier: Q8VCQ6-2) [UniParc]FASTAAdd to basket
Also known as: SMS1-beta

The sequence of this isoform differs from the canonical sequence as follows:
     215-419: Missing.

Show »
Length:214
Mass (Da):24,852
Checksum:iEDFE8073E259AEC4
GO
Isoform 3 (identifier: Q8VCQ6-3) [UniParc]FASTAAdd to basket
Also known as: SMS1-gamma

The sequence of this isoform differs from the canonical sequence as follows:
     215-217: SII → LSP
     218-419: Missing.

Show »
Length:217
Mass (Da):25,149
Checksum:i0CA3256DFE8073E2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti132S → Y in BAC37590 (PubMed:16141072).Curated1
Sequence conflicti406L → I in BAE27428 (PubMed:16141072).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_050673215 – 419Missing in isoform 2. 2 PublicationsAdd BLAST205
Alternative sequenceiVSP_027225215 – 217SII → LSP in isoform 3. 2 Publications3
Alternative sequenceiVSP_027226218 – 419Missing in isoform 3. 2 PublicationsAdd BLAST202

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY509044 mRNA. Translation: AAS90514.1.
AK076554 mRNA. Translation: BAC36390.1.
AK079254 mRNA. Translation: BAC37590.1.
AK082974 mRNA. Translation: BAC38717.1.
AK133967 mRNA. Translation: BAE21960.1.
AK146782 mRNA. Translation: BAE27428.1.
AK150272 mRNA. Translation: BAE29428.1.
AK151170 mRNA. Translation: BAE30173.1.
AK152312 mRNA. Translation: BAE31117.1.
AK153406 mRNA. Translation: BAE31966.1.
AK160539 mRNA. Translation: BAE35856.1.
BC019443 mRNA. Translation: AAH19443.2.
BC085298 mRNA. Translation: AAH85298.1.
CCDSiCCDS29750.1. [Q8VCQ6-1]
RefSeqiNP_001161997.1. NM_001168525.1. [Q8VCQ6-1]
NP_001161998.1. NM_001168526.1. [Q8VCQ6-1]
NP_659041.3. NM_144792.4. [Q8VCQ6-1]
XP_006526881.1. XM_006526818.3. [Q8VCQ6-1]
XP_006526882.1. XM_006526819.1. [Q8VCQ6-1]
XP_006526883.1. XM_006526820.3. [Q8VCQ6-1]
XP_011245503.1. XM_011247201.2. [Q8VCQ6-1]
XP_011245504.1. XM_011247202.2. [Q8VCQ6-1]
XP_011245505.1. XM_011247203.2. [Q8VCQ6-1]
XP_017173594.1. XM_017318105.1. [Q8VCQ6-3]
UniGeneiMm.329810.

Genome annotation databases

EnsembliENSMUST00000099514; ENSMUSP00000097114; ENSMUSG00000040451. [Q8VCQ6-1]
ENSMUST00000142618; ENSMUSP00000117336; ENSMUSG00000040451. [Q8VCQ6-1]
ENSMUST00000151289; ENSMUSP00000123395; ENSMUSG00000040451. [Q8VCQ6-1]
ENSMUST00000152340; ENSMUSP00000119869; ENSMUSG00000040451. [Q8VCQ6-3]
GeneIDi208449.
KEGGimmu:208449.
UCSCiuc008hfc.2. mouse. [Q8VCQ6-1]
uc008hfh.1. mouse. [Q8VCQ6-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY509044 mRNA. Translation: AAS90514.1.
AK076554 mRNA. Translation: BAC36390.1.
AK079254 mRNA. Translation: BAC37590.1.
AK082974 mRNA. Translation: BAC38717.1.
AK133967 mRNA. Translation: BAE21960.1.
AK146782 mRNA. Translation: BAE27428.1.
AK150272 mRNA. Translation: BAE29428.1.
AK151170 mRNA. Translation: BAE30173.1.
AK152312 mRNA. Translation: BAE31117.1.
AK153406 mRNA. Translation: BAE31966.1.
AK160539 mRNA. Translation: BAE35856.1.
BC019443 mRNA. Translation: AAH19443.2.
BC085298 mRNA. Translation: AAH85298.1.
CCDSiCCDS29750.1. [Q8VCQ6-1]
RefSeqiNP_001161997.1. NM_001168525.1. [Q8VCQ6-1]
NP_001161998.1. NM_001168526.1. [Q8VCQ6-1]
NP_659041.3. NM_144792.4. [Q8VCQ6-1]
XP_006526881.1. XM_006526818.3. [Q8VCQ6-1]
XP_006526882.1. XM_006526819.1. [Q8VCQ6-1]
XP_006526883.1. XM_006526820.3. [Q8VCQ6-1]
XP_011245503.1. XM_011247201.2. [Q8VCQ6-1]
XP_011245504.1. XM_011247202.2. [Q8VCQ6-1]
XP_011245505.1. XM_011247203.2. [Q8VCQ6-1]
XP_017173594.1. XM_017318105.1. [Q8VCQ6-3]
UniGeneiMm.329810.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D8CNMR-A1-84[»]
ProteinModelPortaliQ8VCQ6.
SMRiQ8VCQ6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000097114.

PTM databases

PhosphoSitePlusiQ8VCQ6.

Proteomic databases

PaxDbiQ8VCQ6.
PRIDEiQ8VCQ6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000099514; ENSMUSP00000097114; ENSMUSG00000040451. [Q8VCQ6-1]
ENSMUST00000142618; ENSMUSP00000117336; ENSMUSG00000040451. [Q8VCQ6-1]
ENSMUST00000151289; ENSMUSP00000123395; ENSMUSG00000040451. [Q8VCQ6-1]
ENSMUST00000152340; ENSMUSP00000119869; ENSMUSG00000040451. [Q8VCQ6-3]
GeneIDi208449.
KEGGimmu:208449.
UCSCiuc008hfc.2. mouse. [Q8VCQ6-1]
uc008hfh.1. mouse. [Q8VCQ6-2]

Organism-specific databases

CTDi259230.
MGIiMGI:2444110. Sgms1.

Phylogenomic databases

eggNOGiKOG3058. Eukaryota.
ENOG410XNSC. LUCA.
GeneTreeiENSGT00390000001630.
HOGENOMiHOG000233822.
HOVERGENiHBG048216.
InParanoidiQ8VCQ6.
KOiK04714.
OMAiWWYHWLC.
OrthoDBiEOG091G0J6C.
PhylomeDBiQ8VCQ6.
TreeFamiTF314547.

Enzyme and pathway databases

BRENDAi2.7.8.27. 3474.

Miscellaneous databases

ChiTaRSiSgms1. mouse.
EvolutionaryTraceiQ8VCQ6.
PROiQ8VCQ6.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000040451.
CleanExiMM_SGMS1.
ExpressionAtlasiQ8VCQ6. baseline and differential.
GenevisibleiQ8VCQ6. MM.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
IPR025749. Sphingomyelin_synth-like_dom.
[Graphical view]
PfamiPF14360. PAP2_C. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSMS1_MOUSE
AccessioniPrimary (citable) accession number: Q8VCQ6
Secondary accession number(s): Q3UIS8
, Q5J3R0, Q8C464, Q8C583, Q8C652
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: February 16, 2004
Last modified: November 2, 2016
This is version 129 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.