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Q96LT4 (SAMD8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 108. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sphingomyelin synthase-related protein 1

Short name=SMSr
EC=2.7.8.-
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 names
Name:SAMD8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length415 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.8

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.8.

Domain

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

Sequence similarities

Belongs to the sphingomyelin synthase family.

Contains 1 SAM (sterile alpha motif) domain.

Sequence caution

The sequence AAH80593.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96LT4-1)

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.
Isoform 2 (identifier: Q96LT4-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 415415Sphingomyelin synthase-related protein 1
PRO_0000221080

Regions

Transmembrane153 – 17321Helical; Potential
Transmembrane201 – 22121Helical; Potential
Transmembrane232 – 25221Helical; Potential
Transmembrane277 – 29721Helical; Potential
Transmembrane322 – 34221Helical; Potential
Transmembrane347 – 36721Helical; Potential
Topological domain368 – 41548Cytoplasmic Potential
Domain12 – 7867SAM

Sites

Active site3011 By similarity
Active site3441 By similarity
Active site3481

Natural variations

Alternative sequence315 – 32612YTPRS…FLHTL → CKYLFSASMRIR in isoform 2.
VSP_038403
Alternative sequence327 – 41589Missing in isoform 2.
VSP_038404

Experimental info

Mutagenesis3481D → E: Abolishes CPE synthase activity. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2004. Version 2.
Checksum: AAED366F56C9CDC9

FASTA41548,321
        10         20         30         40         50         60 
MAGPNQLCIR RWTTKHVAVW LKDEGFFEYV DILCNKHRLD GITLLTLTEY DLRSPPLEIK 

        70         80         90        100        110        120 
VLGDIKRLML SVRKLQKIHI DVLEEMGYNS DSPMGSMTPF ISALQSTDWL CNGELSHDCD 

       130        140        150        160        170        180 
GPITDLNSDQ YQYMNGKNKH SVRRLDPEYW KTILSCIYVF IVFGFTSFIM VIVHERVPDM 

       190        200        210        220        230        240 
QTYPPLPDIF LDSVPRIPWA FAMTEVCGMI LCYIWLLVLL LHKHRSILLR RLCSLMGTVF 

       250        260        270        280        290        300 
LLRCFTMFVT SLSVPGQHLQ CTGKIYGSVW EKLHRAFAIW SGFGMTLTGV HTCGDYMFSG 

       310        320        330        340        350        360 
HTVVLTMLNF FVTEYTPRSW NFLHTLSWVL NLFGIFFILA AHEHYSIDVF IAFYITTRLF 

       370        380        390        400        410 
LYYHTLANTR AYQQSRRARI WFPMFSFFEC NVNGTVPNEY CWPFSKPAIM KRLIG 

« Hide

Isoform 2 [UniParc].

Checksum: 3FA96772EDFB7486
Show »

FASTA32637,609

References

« Hide 'large scale' references
[1]Huitema K.
Submitted (FEB-2003) to UniProtKB
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Cerebellum.
[3]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lung.
[6]Ebert L., Heil O., Hennig S., Neubert P., Partsch E., Peters M., Radelof U., Schneider D., Korn B.
Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 198-359 (ISOFORM 1).
[7]"Identification of a family of animal sphingomyelin synthases."
Huitema K., Van Den Dikkenberg J., Brouwers J.F.H.M., Holthuis J.C.
EMBO J. 23:33-44(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.
[8]"Sphingomyelin synthase-related protein SMSr controls ceramide homeostasis in the ER."
Vacaru A.M., Tafesse F.G., Ternes P., Kondylis V., Hermansson M., Brouwers J.F., Somerharju P., Rabouille C., Holthuis J.C.
J. Cell Biol. 185:1013-1027(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBSTRATE SPECIFICITY, SUBCELLULAR LOCATION, FUNCTION, MUTAGENESIS OF ASP-348, IDENTIFICATION BY MASS SPECTROMETRY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS53543.1. [Q96LT4-1]
CCDS7347.1. [Q96LT4-2]
RefSeqNP_001167627.1. NM_001174156.1. [Q96LT4-1]
NP_653261.1. NM_144660.2. [Q96LT4-2]
XP_005269598.1. XM_005269541.2. [Q96LT4-1]
UniGeneHs.744986.

3D structure databases

ProteinModelPortalQ96LT4.
SMRQ96LT4. Positions 8-79.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126778. 1 interaction.
IntActQ96LT4. 1 interaction.
STRING9606.ENSP00000361772.

PTM databases

PhosphoSiteQ96LT4.

Polymorphism databases

DMDM44888529.

Proteomic databases

MaxQBQ96LT4.
PaxDbQ96LT4.
PRIDEQ96LT4.

Protocols and materials databases

DNASU142891.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372687; ENSP00000361772; ENSG00000156671. [Q96LT4-2]
ENST00000542569; ENSP00000438042; ENSG00000156671. [Q96LT4-1]
GeneID142891.
KEGGhsa:142891.
UCSCuc001jwx.2. human. [Q96LT4-1]
uc001jwy.2. human. [Q96LT4-2]

Organism-specific databases

CTD142891.
GeneCardsGC10P076859.
HGNCHGNC:26320. SAMD8.
HPAHPA044402.
MIM611575. gene.
neXtProtNX_Q96LT4.
PharmGKBPA134868247.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG306737.
HOGENOMHOG000233822.
HOVERGENHBG048216.
InParanoidQ96LT4.
PhylomeDBQ96LT4.
TreeFamTF314547.

Gene expression databases

ArrayExpressQ96LT4.
BgeeQ96LT4.
CleanExHS_SAMD8.
GenevestigatorQ96LT4.

Family and domain databases

Gene3D1.10.150.50. 1 hit.
InterProIPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
IPR025749. Sphingomyelin_synth-like_dom.
[Graphical view]
PfamPF14360. PAP2_C. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMSSF47769. SSF47769. 1 hit.
PROSITEPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi142891.
NextBio84629.
PROQ96LT4.
SOURCESearch...

Entry information

Entry nameSAMD8_HUMAN
AccessionPrimary (citable) accession number: Q96LT4
Secondary accession number(s): Q5JSC5, Q5JSC8, Q66K52
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2004
Last modified: July 9, 2014
This is version 108 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM