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O88455

- DHCR7_MOUSE

UniProt

O88455 - DHCR7_MOUSE

Protein

7-dehydrocholesterol reductase

Gene

Dhcr7

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    Functioni

    Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).

    Catalytic activityi

    Cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH.

    Pathwayi

    GO - Molecular functioni

    1. 7-dehydrocholesterol reductase activity Source: MGI

    GO - Biological processi

    1. blood vessel development Source: MGI
    2. cell differentiation Source: MGI
    3. cholesterol biosynthetic process Source: UniProtKB-UniPathway
    4. lung development Source: MGI
    5. multicellular organism growth Source: MGI
    6. post-embryonic development Source: MGI
    7. regulation of cell proliferation Source: MGI
    8. regulation of cholesterol biosynthetic process Source: Ensembl
    9. sterol biosynthetic process Source: MGI

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Cholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

    Keywords - Ligandi

    NADP

    Enzyme and pathway databases

    ReactomeiREACT_198969. Activation of gene expression by SREBF (SREBP).
    REACT_208531. Cholesterol biosynthesis.
    UniPathwayiUPA00063.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    7-dehydrocholesterol reductase (EC:1.3.1.21)
    Short name:
    7-DHC reductase
    Alternative name(s):
    Sterol Delta(7)-reductase
    Gene namesi
    Name:Dhcr7
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 7

    Organism-specific databases

    MGIiMGI:1298378. Dhcr7.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW
    3. nuclear outer membrane Source: Ensembl

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 4714717-dehydrocholesterol reductasePRO_0000207503Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei14 – 141PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO88455.
    PRIDEiO88455.

    PTM databases

    PhosphoSiteiO88455.

    Expressioni

    Gene expression databases

    ArrayExpressiO88455.
    BgeeiO88455.
    CleanExiMM_DHCR7.
    GenevestigatoriO88455.

    Structurei

    3D structure databases

    ProteinModelPortaliO88455.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei36 – 5621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei95 – 11521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei144 – 16421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei173 – 19321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei233 – 25321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei262 – 28221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei302 – 32221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei327 – 34721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei416 – 43621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ERG4/ERG24 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG72042.
    GeneTreeiENSGT00390000000417.
    HOGENOMiHOG000193296.
    HOVERGENiHBG007825.
    InParanoidiO88455.
    KOiK00213.
    OMAiFYIIYMT.
    PhylomeDBiO88455.
    TreeFamiTF101180.

    Family and domain databases

    InterProiIPR001171. Ergosterol_biosynth_ERG4_ERG24.
    IPR018083. Sterol_reductase_CS.
    [Graphical view]
    PfamiPF01222. ERG4_ERG24. 1 hit.
    [Graphical view]
    PROSITEiPS01017. STEROL_REDUCT_1. 1 hit.
    PS01018. STEROL_REDUCT_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O88455-1 [UniParc]FASTAAdd to Basket

    « Hide

    MASKSQHNAP KVKSPNGKAG SQGQWGRAWE VDWFSLASII FLLLFAPFIV    50
    YYFIMACDQY SCSLTAPALD IATGHASLAD IWAKTPPVTA KAAQLYALWV 100
    SFQVLLYSWL PDFCHRFLPG YVGGVQEGAI TPAGVVNKYE VNGLQAWLIT 150
    HILWFVNAYL LSWFSPTIIF DNWIPLLWCA NILGYAVSTF AMIKGYLFPT 200
    SAEDCKFTGN FFYNYMMGIE FNPRIGKWFD FKLFFNGRPG IVAWTLINLS 250
    FAAKQQELYG HVTNSMILVN VLQAIYVLDF FWNETWYLKT IDICHDHFGW 300
    YLGWGDCVWL PYLYTLQGLY LVYHPVQLST PNALGILLLG LVGYYIFRMT 350
    NHQKDLFRRT DGRCLIWGKK PKAIECSYTS ADGLKHHSKL LVSGFWGVAR 400
    HFNYTGDLMG SLAYCLACGG GHLLPYFYII YMTILLTHRC LRDEHRCANK 450
    YGRDWERYTA AVPYRLLPGI F 471
    Length:471
    Mass (Da):53,919
    Last modified:November 1, 1998 - v1
    Checksum:i6B1BC356CC539290
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF057368 mRNA. Translation: AAC40164.1.
    BC006854 mRNA. Translation: AAH06854.1.
    CCDSiCCDS22048.1.
    RefSeqiNP_031882.1. NM_007856.2.
    XP_006508541.1. XM_006508478.1.
    XP_006508542.1. XM_006508479.1.
    XP_006508543.1. XM_006508480.1.
    XP_006508544.1. XM_006508481.1.
    UniGeneiMm.249342.

    Genome annotation databases

    EnsembliENSMUST00000073878; ENSMUSP00000073541; ENSMUSG00000058454.
    ENSMUST00000124340; ENSMUSP00000117659; ENSMUSG00000058454.
    ENSMUST00000141916; ENSMUSP00000121782; ENSMUSG00000058454.
    GeneIDi13360.
    KEGGimmu:13360.
    UCSCiuc009kqc.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF057368 mRNA. Translation: AAC40164.1 .
    BC006854 mRNA. Translation: AAH06854.1 .
    CCDSi CCDS22048.1.
    RefSeqi NP_031882.1. NM_007856.2.
    XP_006508541.1. XM_006508478.1.
    XP_006508542.1. XM_006508479.1.
    XP_006508543.1. XM_006508480.1.
    XP_006508544.1. XM_006508481.1.
    UniGenei Mm.249342.

    3D structure databases

    ProteinModelPortali O88455.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei O88455.

    Proteomic databases

    PaxDbi O88455.
    PRIDEi O88455.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000073878 ; ENSMUSP00000073541 ; ENSMUSG00000058454 .
    ENSMUST00000124340 ; ENSMUSP00000117659 ; ENSMUSG00000058454 .
    ENSMUST00000141916 ; ENSMUSP00000121782 ; ENSMUSG00000058454 .
    GeneIDi 13360.
    KEGGi mmu:13360.
    UCSCi uc009kqc.1. mouse.

    Organism-specific databases

    CTDi 1717.
    MGIi MGI:1298378. Dhcr7.

    Phylogenomic databases

    eggNOGi NOG72042.
    GeneTreei ENSGT00390000000417.
    HOGENOMi HOG000193296.
    HOVERGENi HBG007825.
    InParanoidi O88455.
    KOi K00213.
    OMAi FYIIYMT.
    PhylomeDBi O88455.
    TreeFami TF101180.

    Enzyme and pathway databases

    UniPathwayi UPA00063 .
    Reactomei REACT_198969. Activation of gene expression by SREBF (SREBP).
    REACT_208531. Cholesterol biosynthesis.

    Miscellaneous databases

    NextBioi 283692.
    PROi O88455.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O88455.
    Bgeei O88455.
    CleanExi MM_DHCR7.
    Genevestigatori O88455.

    Family and domain databases

    InterProi IPR001171. Ergosterol_biosynth_ERG4_ERG24.
    IPR018083. Sterol_reductase_CS.
    [Graphical view ]
    Pfami PF01222. ERG4_ERG24. 1 hit.
    [Graphical view ]
    PROSITEi PS01017. STEROL_REDUCT_1. 1 hit.
    PS01018. STEROL_REDUCT_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome."
      Fitzky B.U., Witsch-Baumgartner M., Erdel M., Lee J.N., Paik Y.-K., Glossmann H., Utermann G., Moebius F.F.
      Proc. Natl. Acad. Sci. U.S.A. 95:8181-8186(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: C57BL/6J.
    2. "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].

    Entry informationi

    Entry nameiDHCR7_MOUSE
    AccessioniPrimary (citable) accession number: O88455
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 31, 2002
    Last sequence update: November 1, 1998
    Last modified: October 1, 2014
    This is version 108 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3