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O15121

- DEGS1_HUMAN

UniProt

O15121 - DEGS1_HUMAN

Protein

Sphingolipid delta(4)-desaturase DES1

Gene

DEGS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine).1 Publication

    GO - Molecular functioni

    1. electron carrier activity Source: UniProtKB
    2. oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen Source: InterPro

    GO - Biological processi

    1. small molecule metabolic process Source: Reactome
    2. sphingolipid biosynthetic process Source: Reactome
    3. sphingolipid metabolic process Source: Reactome
    4. unsaturated fatty acid biosynthetic process Source: ProtInc

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism

    Enzyme and pathway databases

    ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sphingolipid delta(4)-desaturase DES1 (EC:1.14.-.-)
    Alternative name(s):
    Cell migration-inducing gene 15 protein
    Degenerative spermatocyte homolog 1
    Membrane lipid desaturase
    Gene namesi
    Name:DEGS1
    Synonyms:DES1, MLD
    ORF Names:MIG15
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:13709. DEGS1.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: ProtInc
    2. endoplasmic reticulum membrane Source: Reactome
    3. integral component of plasma membrane Source: ProtInc
    4. membrane Source: ProtInc
    5. mitochondrion Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27250.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed
    Chaini2 – 323322Sphingolipid delta(4)-desaturase DES1PRO_0000312727Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi2 – 21N-myristoyl glycine1 Publication
    Modified residuei307 – 3071Phosphoserine1 Publication

    Post-translational modificationi

    Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels.1 Publication

    Keywords - PTMi

    Lipoprotein, Myristate, Phosphoprotein

    Proteomic databases

    MaxQBiO15121.
    PaxDbiO15121.
    PRIDEiO15121.

    PTM databases

    PhosphoSiteiO15121.

    Expressioni

    Tissue specificityi

    Ubiquitous.1 Publication

    Gene expression databases

    ArrayExpressiO15121.
    BgeeiO15121.
    CleanExiHS_DEGS1.
    GenevestigatoriO15121.

    Organism-specific databases

    HPAiHPA014763.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PYGMP112171EBI-1052713,EBI-357469
    SLC16A1P539851EBI-1052713,EBI-1054708
    SURF4O152601EBI-1052713,EBI-1044848
    TSSC1Q53HC91EBI-1052713,EBI-1055422

    Protein-protein interaction databases

    BioGridi114130. 7 interactions.
    IntActiO15121. 1 interaction.
    STRINGi9606.ENSP00000316476.

    Structurei

    3D structure databases

    ProteinModelPortaliO15121.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei41 – 6121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei68 – 8821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei102 – 12221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei152 – 17221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei184 – 20421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei209 – 22921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG321008.
    HOGENOMiHOG000188299.
    HOVERGENiHBG052775.
    InParanoidiO15121.
    KOiK04712.
    OMAiHNSAFGH.
    PhylomeDBiO15121.
    TreeFamiTF313582.

    Family and domain databases

    InterProiIPR005804. Fatty_acid_desaturase-1.
    IPR011388. Sphingolipid_d4-desaturase.
    IPR013866. Sphingolipid_d4-desaturase_N.
    [Graphical view]
    PfamiPF00487. FA_desaturase. 1 hit.
    PF08557. Lipid_DES. 1 hit.
    [Graphical view]
    PIRSFiPIRSF017228. Sphnglp_dlt4_des. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    O15121-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGSRVSREDF EWVYTDQPHA DRRREILAKY PEIKSLMKPD PNLIWIIIMM    50
    VLTQLGAFYI VKDLDWKWVI FGAYAFGSCI NHSMTLAIHE IAHNAAFGNC 100
    KAMWNRWFGM FANLPIGIPY SISFKRYHMD HHRYLGADGV DVDIPTDFEG 150
    WFFCTAFRKF IWVILQPLFY AFRPLFINPK PITYLEVINT VAQVTFDILI 200
    YYFLGIKSLV YMLAASLLGL GLHPISGHFI AEHYMFLKGH ETYSYYGPLN 250
    LLTFNVGYHN EHHDFPNIPG KSLPLVRKIA AEYYDNLPHY NSWIKVLYDF 300
    VMDDTISPYS RMKRHQKGEM VLE 323
    Length:323
    Mass (Da):37,866
    Last modified:January 1, 1998 - v1
    Checksum:i9FF2E4A0B87EA71C
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF002668 mRNA. Translation: AAB62238.1.
    AF466375 mRNA. Translation: AAM12531.1.
    AY423730 mRNA. Translation: AAS00493.1.
    CH471098 Genomic DNA. Translation: EAW69711.1.
    BC000961 mRNA. Translation: AAH00961.1.
    CCDSiCCDS1540.1.
    RefSeqiNP_003667.1. NM_003676.3.
    UniGeneiHs.299878.

    Genome annotation databases

    EnsembliENST00000323699; ENSP00000316476; ENSG00000143753.
    ENST00000391877; ENSP00000375749; ENSG00000143753.
    GeneIDi8560.
    KEGGihsa:8560.
    UCSCiuc001hoj.3. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF002668 mRNA. Translation: AAB62238.1 .
    AF466375 mRNA. Translation: AAM12531.1 .
    AY423730 mRNA. Translation: AAS00493.1 .
    CH471098 Genomic DNA. Translation: EAW69711.1 .
    BC000961 mRNA. Translation: AAH00961.1 .
    CCDSi CCDS1540.1.
    RefSeqi NP_003667.1. NM_003676.3.
    UniGenei Hs.299878.

    3D structure databases

    ProteinModelPortali O15121.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114130. 7 interactions.
    IntActi O15121. 1 interaction.
    STRINGi 9606.ENSP00000316476.

    Chemistry

    ChEMBLi CHEMBL2021749.

    PTM databases

    PhosphoSitei O15121.

    Proteomic databases

    MaxQBi O15121.
    PaxDbi O15121.
    PRIDEi O15121.

    Protocols and materials databases

    DNASUi 8560.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000323699 ; ENSP00000316476 ; ENSG00000143753 .
    ENST00000391877 ; ENSP00000375749 ; ENSG00000143753 .
    GeneIDi 8560.
    KEGGi hsa:8560.
    UCSCi uc001hoj.3. human.

    Organism-specific databases

    CTDi 8560.
    GeneCardsi GC01P224364.
    HGNCi HGNC:13709. DEGS1.
    HPAi HPA014763.
    neXtProti NX_O15121.
    PharmGKBi PA27250.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG321008.
    HOGENOMi HOG000188299.
    HOVERGENi HBG052775.
    InParanoidi O15121.
    KOi K04712.
    OMAi HNSAFGH.
    PhylomeDBi O15121.
    TreeFami TF313582.

    Enzyme and pathway databases

    Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

    Miscellaneous databases

    ChiTaRSi DEGS1. human.
    GenomeRNAii 8560.
    NextBioi 32089.
    PROi O15121.

    Gene expression databases

    ArrayExpressi O15121.
    Bgeei O15121.
    CleanExi HS_DEGS1.
    Genevestigatori O15121.

    Family and domain databases

    InterProi IPR005804. Fatty_acid_desaturase-1.
    IPR011388. Sphingolipid_d4-desaturase.
    IPR013866. Sphingolipid_d4-desaturase_N.
    [Graphical view ]
    Pfami PF00487. FA_desaturase. 1 hit.
    PF08557. Lipid_DES. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF017228. Sphnglp_dlt4_des. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The product of the MLD gene is a member of the membrane fatty acid desaturase family: overexpression of MLD inhibits EGF receptor biosynthesis."
      Cadena D.L., Kurten R.C., Gill G.N.
      Biochemistry 36:6960-6967(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Cervix carcinoma.
    2. "Identification and characterization of a sphingolipid delta 4-desaturase family."
      Ternes P., Franke S., Zaehringer U., Sperling P., Heinz E.
      J. Biol. Chem. 277:25512-25518(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION.
      Tissue: Lung.
    3. "Identification of a human migration-inducing gene."
      Kim J.W.
      Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    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].
      Tissue: Placenta.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-307, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "N-Myristoylation targets dihydroceramide Delta4-desaturase 1 to mitochondria: partial involvement in the apoptotic effect of myristic acid."
      Beauchamp E., Tekpli X., Marteil G., Lagadic-Gossmann D., Legrand P., Rioux V.
      Biochimie 91:1411-1419(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, MYRISTOYLATION AT GLY-2.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiDEGS1_HUMAN
    AccessioniPrimary (citable) accession number: O15121
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 4, 2007
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 115 of the entry and version 1 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 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3