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Q96LT4

- SAMD8_HUMAN

UniProt

Q96LT4 - SAMD8_HUMAN

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
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 2 (01 Mar 2004)
      Previous versions | rss
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    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 – 3011By similarity
    Active sitei344 – 3441By 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

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

    Organism-specific databases

    HGNCiHGNC:26320. SAMD8.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

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

    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 1PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini368 – 41548CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei153 – 17321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei201 – 22121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei232 – 25221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei277 – 29721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei322 – 34221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei347 – 36721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini12 – 7867SAMPROSITE-ProRule annotationAdd
    BLAST

    Domaini

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

    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

    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. 1 PublicationVSP_038403Add
    BLAST
    Alternative sequencei327 – 41589Missing in isoform 2. 1 PublicationVSP_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

    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: CerebellumImported.
    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: October 1, 2014
    This is version 109 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