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Q6QHC5

- DEGS2_HUMAN

UniProt

Q6QHC5 - DEGS2_HUMAN

Protein

Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2

Gene

DEGS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 2 (24 Nov 2009)
      Previous versions | rss
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    Functioni

    Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-hydroxylase.By similarity

    Pathwayi

    GO - Molecular functioni

    1. sphingolipid delta-4 desaturase activity Source: Ensembl
    2. sphingosine hydroxylase activity Source: Ensembl

    GO - Biological processi

    1. ceramide biosynthetic process Source: Ensembl
    2. small molecule metabolic process Source: Reactome
    3. sphinganine metabolic process Source: Ensembl
    4. sphingolipid biosynthetic process Source: Reactome
    5. sphingolipid metabolic process Source: Reactome

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Lipid biosynthesis, Lipid metabolism

    Enzyme and pathway databases

    BioCyciMetaCyc:HS15665-MONOMER.
    ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.
    UniPathwayiUPA00786.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 (EC:1.-.-.-, EC:1.14.-.-)
    Alternative name(s):
    Degenerative spermatocyte homolog 2
    Gene namesi
    Name:DEGS2Imported
    Synonyms:C14orf66
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:20113. DEGS2.

    Subcellular locationi

    Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134973300.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 323322Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2By similarityPRO_0000312816Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi2 – 21N-myristoyl glycineBy similarity

    Keywords - PTMi

    Lipoprotein, Myristate

    Proteomic databases

    PaxDbiQ6QHC5.
    PRIDEiQ6QHC5.

    PTM databases

    PhosphoSiteiQ6QHC5.

    Expressioni

    Tissue specificityi

    Highly expressed in skin, intestine and kidney.1 Publication

    Inductioni

    Up-regulated during keratinocyte differentiation. Not expressed at day 0 or day 3 after differentiation, detected on day 6 and increases by day 9.1 Publication

    Gene expression databases

    ArrayExpressiQ6QHC5.
    BgeeiQ6QHC5.
    CleanExiHS_DEGS2.
    GenevestigatoriQ6QHC5.

    Organism-specific databases

    HPAiHPA046644.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000307126.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6QHC5.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei45 – 6521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei68 – 8821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei210 – 23122HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni95 – 995Required for C4-hydroxylase activityBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG321008.
    HOGENOMiHOG000188299.
    HOVERGENiHBG052775.
    InParanoidiQ6QHC5.
    KOiK04712.
    OMAiWFFCTPA.
    OrthoDBiEOG7WDN2X.
    PhylomeDBiQ6QHC5.
    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.

    Q6QHC5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGNSASRSDF EWVYTDQPHT QRRKEILAKY PAIKALMRPD PRLKWAVLVL    50
    VLVQMLACWL VRGLAWRWLL FWAYAFGGCV NHSLTLAIHD ISHNAAFGTG 100
    RAARNRWLAV FANLPVGVPY AASFKKYHVD HHRYLGGDGL DVDVPTRLEG 150
    WFFCTPARKL LWLVLQPFFY SLRPLCVHPK AVTRMEVLNT LVQLAADLAI 200
    FALWGLKPVV YLLASSFLGL GLHPISGHFV AEHYMFLKGH ETYSYYGPLN 250
    WITFNVGYHV EHHDFPSIPG YNLPLVRKIA PEYYDHLPQH HSWVKVLWDF 300
    VFEDSLGPYA RVKRVYRLAK DGL 323
    Length:323
    Mass (Da):37,197
    Last modified:November 24, 2009 - v2
    Checksum:i4726A4EBD357EB0F
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti8 – 81S → N.2 Publications
    Corresponds to variant rs7157599 [ dbSNP | Ensembl ].
    VAR_060347
    Natural varianti57 – 571A → T.1 Publication
    Corresponds to variant rs4905937 [ dbSNP | Ensembl ].
    VAR_055698

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY541700 mRNA. Translation: AAS68362.1.
    AL133523 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW81688.1.
    BC063598 mRNA. Translation: AAH63598.1.
    CCDSiCCDS9956.1.
    RefSeqiNP_996801.2. NM_206918.2.
    UniGeneiHs.159643.

    Genome annotation databases

    EnsembliENST00000305631; ENSP00000307126; ENSG00000168350.
    GeneIDi123099.
    KEGGihsa:123099.
    UCSCiuc001ygx.2. human.

    Polymorphism databases

    DMDMi269849561.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY541700 mRNA. Translation: AAS68362.1 .
    AL133523 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW81688.1 .
    BC063598 mRNA. Translation: AAH63598.1 .
    CCDSi CCDS9956.1.
    RefSeqi NP_996801.2. NM_206918.2.
    UniGenei Hs.159643.

    3D structure databases

    ProteinModelPortali Q6QHC5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000307126.

    PTM databases

    PhosphoSitei Q6QHC5.

    Polymorphism databases

    DMDMi 269849561.

    Proteomic databases

    PaxDbi Q6QHC5.
    PRIDEi Q6QHC5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000305631 ; ENSP00000307126 ; ENSG00000168350 .
    GeneIDi 123099.
    KEGGi hsa:123099.
    UCSCi uc001ygx.2. human.

    Organism-specific databases

    CTDi 123099.
    GeneCardsi GC14M100612.
    H-InvDB HIX0037711.
    HGNCi HGNC:20113. DEGS2.
    HPAi HPA046644.
    MIMi 610862. gene.
    neXtProti NX_Q6QHC5.
    PharmGKBi PA134973300.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG321008.
    HOGENOMi HOG000188299.
    HOVERGENi HBG052775.
    InParanoidi Q6QHC5.
    KOi K04712.
    OMAi WFFCTPA.
    OrthoDBi EOG7WDN2X.
    PhylomeDBi Q6QHC5.
    TreeFami TF313582.

    Enzyme and pathway databases

    UniPathwayi UPA00786 .
    BioCyci MetaCyc:HS15665-MONOMER.
    Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

    Miscellaneous databases

    GenomeRNAii 123099.
    NextBioi 81073.
    PROi Q6QHC5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6QHC5.
    Bgeei Q6QHC5.
    CleanExi HS_DEGS2.
    Genevestigatori Q6QHC5.

    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. "Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation."
      Mizutani Y., Kihara A., Igarashi Y.
      FEBS Lett. 563:93-97(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, INDUCTION, VARIANT ASN-8.
      Tissue: SkinImported.
    2. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASN-8.
    4. "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], VARIANT THR-57.
      Tissue: SkinImported.

    Entry informationi

    Entry nameiDEGS2_HUMAN
    AccessioniPrimary (citable) accession number: Q6QHC5
    Secondary accession number(s): Q6P492
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 4, 2007
    Last sequence update: November 24, 2009
    Last modified: October 1, 2014
    This is version 86 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 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3