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Q96LT4

- SAMD8_HUMAN

UniProt

Q96LT4 - SAMD8_HUMAN

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Protein
Sphingomyelin synthase-related protein 1
Gene
SAMD8
Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei301 – 3011 By similarity
Active sitei344 – 3441 By similarity
Active sitei348 – 3481

GO - Molecular functioni

  1. transferase activity Source: UniProtKB-KW

GO - Biological processi

  1. ceramide biosynthetic process Source: UniProtKB
  2. regulation of ceramide biosynthetic process Source: UniProtKB
  3. sphingomyelin biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Lipid metabolism, Sphingolipid metabolism

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)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:26320. SAMD8.

Subcellular locationi

Endoplasmic reticulum membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei153 – 17321Helical; Reviewed prediction
Add
BLAST
Transmembranei201 – 22121Helical; Reviewed prediction
Add
BLAST
Transmembranei232 – 25221Helical; Reviewed prediction
Add
BLAST
Transmembranei277 – 29721Helical; Reviewed prediction
Add
BLAST
Transmembranei322 – 34221Helical; Reviewed prediction
Add
BLAST
Transmembranei347 – 36721Helical; Reviewed prediction
Add
BLAST
Topological domaini368 – 41548Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of endoplasmic reticulum membrane Source: UniProtKB
  2. integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi348 – 3481D → E: Abolishes CPE synthase activity. 1 Publication

Organism-specific databases

PharmGKBiPA134868247.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 415415Sphingomyelin synthase-related protein 1
PRO_0000221080Add
BLAST

Proteomic databases

MaxQBiQ96LT4.
PaxDbiQ96LT4.
PRIDEiQ96LT4.

PTM databases

PhosphoSiteiQ96LT4.

Expressioni

Gene expression databases

ArrayExpressiQ96LT4.
BgeeiQ96LT4.
CleanExiHS_SAMD8.
GenevestigatoriQ96LT4.

Organism-specific databases

HPAiHPA044402.

Interactioni

Protein-protein interaction databases

BioGridi126778. 1 interaction.
IntActiQ96LT4. 1 interaction.
STRINGi9606.ENSP00000361772.

Structurei

3D structure databases

ProteinModelPortaliQ96LT4.
SMRiQ96LT4. Positions 8-79.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini12 – 7867SAM
Add
BLAST

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG306737.
HOGENOMiHOG000233822.
HOVERGENiHBG048216.
InParanoidiQ96LT4.
PhylomeDBiQ96LT4.
TreeFamiTF314547.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
IPR025749. Sphingomyelin_synth-like_dom.
[Graphical view]
PfamiPF14360. PAP2_C. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MAGPNQLCIR RWTTKHVAVW LKDEGFFEYV DILCNKHRLD GITLLTLTEY    50
DLRSPPLEIK VLGDIKRLML SVRKLQKIHI DVLEEMGYNS DSPMGSMTPF 100
ISALQSTDWL CNGELSHDCD GPITDLNSDQ YQYMNGKNKH SVRRLDPEYW 150
KTILSCIYVF IVFGFTSFIM VIVHERVPDM QTYPPLPDIF LDSVPRIPWA 200
FAMTEVCGMI LCYIWLLVLL LHKHRSILLR RLCSLMGTVF LLRCFTMFVT 250
SLSVPGQHLQ CTGKIYGSVW EKLHRAFAIW SGFGMTLTGV HTCGDYMFSG 300
HTVVLTMLNF FVTEYTPRSW NFLHTLSWVL NLFGIFFILA AHEHYSIDVF 350
IAFYITTRLF LYYHTLANTR AYQQSRRARI WFPMFSFFEC NVNGTVPNEY 400
CWPFSKPAIM KRLIG 415
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 AAH80593.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei315 – 32612YTPRS…FLHTL → CKYLFSASMRIR in isoform 2.
VSP_038403Add
BLAST
Alternative sequencei327 – 41589Missing in isoform 2.
VSP_038404Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005269541.2. [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]
uc001jwy.2. human. [Q96LT4-2]

Polymorphism databases

DMDMi44888529.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS53543.1. [Q96LT4-1 ]
CCDS7347.1. [Q96LT4-2 ]
RefSeqi NP_001167627.1. NM_001174156.1. [Q96LT4-1 ]
NP_653261.1. NM_144660.2. [Q96LT4-2 ]
XP_005269598.1. XM_005269541.2. [Q96LT4-1 ]
UniGenei Hs.744986.

3D structure databases

ProteinModelPortali Q96LT4.
SMRi Q96LT4. Positions 8-79.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126778. 1 interaction.
IntActi Q96LT4. 1 interaction.
STRINGi 9606.ENSP00000361772.

PTM databases

PhosphoSitei Q96LT4.

Polymorphism databases

DMDMi 44888529.

Proteomic databases

MaxQBi Q96LT4.
PaxDbi Q96LT4.
PRIDEi Q96LT4.

Protocols and materials databases

DNASUi 142891.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372687 ; ENSP00000361772 ; ENSG00000156671 . [Q96LT4-2 ]
ENST00000542569 ; ENSP00000438042 ; ENSG00000156671 . [Q96LT4-1 ]
GeneIDi 142891.
KEGGi hsa:142891.
UCSCi uc001jwx.2. human. [Q96LT4-1 ]
uc001jwy.2. human. [Q96LT4-2 ]

Organism-specific databases

CTDi 142891.
GeneCardsi GC10P076859.
HGNCi HGNC:26320. SAMD8.
HPAi HPA044402.
MIMi 611575. gene.
neXtProti NX_Q96LT4.
PharmGKBi PA134868247.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG306737.
HOGENOMi HOG000233822.
HOVERGENi HBG048216.
InParanoidi Q96LT4.
PhylomeDBi Q96LT4.
TreeFami TF314547.

Miscellaneous databases

GenomeRNAii 142891.
NextBioi 84629.
PROi Q96LT4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96LT4.
Bgeei Q96LT4.
CleanExi HS_SAMD8.
Genevestigatori Q96LT4.

Family and domain databases

Gene3Di 1.10.150.50. 1 hit.
InterProi IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
IPR025749. Sphingomyelin_synth-like_dom.
[Graphical view ]
Pfami PF14360. PAP2_C. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view ]
SMARTi SM00454. SAM. 1 hit.
[Graphical view ]
SUPFAMi SSF47769. SSF47769. 1 hit.
PROSITEi PS50105. SAM_DOMAIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiSAMD8_HUMAN
AccessioniPrimary (citable) accession number: Q96LT4
Secondary accession number(s): Q5JSC5, Q5JSC8, Q66K52
Entry historyi
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 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

External Data

Dasty 3

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