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Protein

Sphingomyelin synthase-related protein 1

Gene

SAMD8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Sphingomyelin synthases synthesize sphingolipids through transfer of a phosphatidyl head group on to the primary hydroxyl of ceramide. SAMD8 is an endoplasmic reticulum (ER) transferase that has no sphingomyelin synthase activity but can convert phosphatidylethanolamine (PE) and ceramide to ceramide phosphoethanolamine (CPE) albeit with low product yield. Appears to operate as a ceramide sensor to control ceramide homeostasis in the endoplasmic reticulum rather than a converter of ceramides. Seems to be critical for the integrity of the early secretory pathway.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei301By similarity1
Active sitei344By similarity1
Active sitei3481

GO - Molecular functioni

GO - Biological processi

  • ceramide biosynthetic process Source: UniProtKB
  • ceramide phosphoethanolamine biosynthetic process Source: Ensembl
  • regulation of ceramide biosynthetic process Source: UniProtKB
  • sphingolipid biosynthetic process Source: Reactome
  • sphingomyelin biosynthetic process Source: UniProtKB

Keywordsi

Molecular functionTransferase
Biological processLipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

ReactomeiR-HSA-1660661. Sphingolipid de novo biosynthesis.

Chemistry databases

SwissLipidsiSLP:000000704.

Names & Taxonomyi

Protein namesi
Recommended name:
Sphingomyelin synthase-related protein 1 (EC:2.7.8.-)
Short name:
SMSr
Alternative name(s):
Ceramide phosphoethanolamine synthase
Short name:
CPE synthase
Sterile alpha motif domain-containing protein 8
Short name:
SAM domain-containing protein 8
Gene namesi
Name:SAMD8
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000156671.12.
HGNCiHGNC:26320. SAMD8.

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
Transmembranei153 – 173HelicalSequence analysisAdd BLAST21
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Transmembranei232 – 252HelicalSequence analysisAdd BLAST21
Transmembranei277 – 297HelicalSequence analysisAdd BLAST21
Transmembranei322 – 342HelicalSequence analysisAdd BLAST21
Transmembranei347 – 367HelicalSequence analysisAdd BLAST21
Topological domaini368 – 415CytoplasmicSequence analysisAdd BLAST48

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi348D → E: Abolishes CPE synthase activity. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000156671.
PharmGKBiPA134868247.

Polymorphism and mutation databases

BioMutaiSAMD8.
DMDMi44888529.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002210801 – 415Sphingomyelin synthase-related protein 1Add BLAST415

Proteomic databases

EPDiQ96LT4.
MaxQBiQ96LT4.
PaxDbiQ96LT4.
PeptideAtlasiQ96LT4.
PRIDEiQ96LT4.

PTM databases

iPTMnetiQ96LT4.
PhosphoSitePlusiQ96LT4.

Expressioni

Gene expression databases

BgeeiENSG00000156671.
CleanExiHS_SAMD8.
ExpressionAtlasiQ96LT4. baseline and differential.
GenevisibleiQ96LT4. HS.

Organism-specific databases

HPAiHPA044402.

Interactioni

Protein-protein interaction databases

BioGridi126778. 1 interactor.
IntActiQ96LT4. 2 interactors.
STRINGi9606.ENSP00000438042.

Structurei

3D structure databases

ProteinModelPortaliQ96LT4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini12 – 78SAMPROSITE-ProRule annotationAdd BLAST67

Domaini

The SAM domain is required to retain SMAD8 in the endoplasmic reticulum.

Sequence similaritiesi

Belongs to the sphingomyelin synthase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3058. Eukaryota.
ENOG410XNSC. LUCA.
GeneTreeiENSGT00390000001630.
HOGENOMiHOG000233822.
HOVERGENiHBG048216.
InParanoidiQ96LT4.
PhylomeDBiQ96LT4.
TreeFamiTF314547.

Family and domain databases

InterProiView protein in InterPro
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR025749. Sphingomyelin_synth-like_dom.
PfamiView protein in Pfam
PF14360. PAP2_C. 1 hit.
PF00536. SAM_1. 1 hit.
SMARTiView protein in SMART
SM00454. SAM. 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: Q96LT4-1) [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
MAGPNQLCIR RWTTKHVAVW LKDEGFFEYV DILCNKHRLD GITLLTLTEY
60 70 80 90 100
DLRSPPLEIK VLGDIKRLML SVRKLQKIHI DVLEEMGYNS DSPMGSMTPF
110 120 130 140 150
ISALQSTDWL CNGELSHDCD GPITDLNSDQ YQYMNGKNKH SVRRLDPEYW
160 170 180 190 200
KTILSCIYVF IVFGFTSFIM VIVHERVPDM QTYPPLPDIF LDSVPRIPWA
210 220 230 240 250
FAMTEVCGMI LCYIWLLVLL LHKHRSILLR RLCSLMGTVF LLRCFTMFVT
260 270 280 290 300
SLSVPGQHLQ CTGKIYGSVW EKLHRAFAIW SGFGMTLTGV HTCGDYMFSG
310 320 330 340 350
HTVVLTMLNF FVTEYTPRSW NFLHTLSWVL NLFGIFFILA AHEHYSIDVF
360 370 380 390 400
IAFYITTRLF LYYHTLANTR AYQQSRRARI WFPMFSFFEC NVNGTVPNEY
410
CWPFSKPAIM KRLIG
Length:415
Mass (Da):48,321
Last modified:March 1, 2004 - v2
Checksum:iAAED366F56C9CDC9
GO
Isoform 2 (identifier: Q96LT4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     315-326: YTPRSWNFLHTL → CKYLFSASMRIR
     327-415: Missing.

Show »
Length:326
Mass (Da):37,609
Checksum:i3FA96772EDFB7486
GO

Sequence cautioni

The sequence AAH80593 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_038403315 – 326YTPRS…FLHTL → CKYLFSASMRIR in isoform 2. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_038404327 – 415Missing in isoform 2. 1 PublicationAdd BLAST89

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057811 mRNA. Translation: BAB71586.1.
AL392111 Genomic DNA. Translation: CAI40906.1.
AL392111 Genomic DNA. Translation: CAI40909.1.
CH471083 Genomic DNA. Translation: EAW54566.1.
CH471083 Genomic DNA. Translation: EAW54567.1.
BC080593 mRNA. Translation: AAH80593.1. Different initiation.
BX280496 mRNA. No translation available.
CCDSiCCDS53543.1. [Q96LT4-1]
CCDS7347.1. [Q96LT4-2]
RefSeqiNP_001167627.1. NM_001174156.1. [Q96LT4-1]
NP_653261.1. NM_144660.2. [Q96LT4-2]
XP_005269598.1. XM_005269541.4. [Q96LT4-1]
XP_011537613.1. XM_011539311.1.
XP_011537614.1. XM_011539312.2. [Q96LT4-1]
XP_016871228.1. XM_017015739.1. [Q96LT4-1]
UniGeneiHs.744986.

Genome annotation databases

EnsembliENST00000372687; ENSP00000361772; ENSG00000156671. [Q96LT4-2]
ENST00000542569; ENSP00000438042; ENSG00000156671. [Q96LT4-1]
GeneIDi142891.
KEGGihsa:142891.
UCSCiuc001jwx.2. human. [Q96LT4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiSAMD8_HUMAN
AccessioniPrimary (citable) accession number: Q96LT4
Secondary accession number(s): Q5JSC5, Q5JSC8, Q66K52
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2004
Last modified: September 27, 2017
This is version 132 of the entry and version 2 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

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families