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Q9UBM7

- DHCR7_HUMAN

UniProt

Q9UBM7 - DHCR7_HUMAN

Protein

7-dehydrocholesterol reductase

Gene

DHCR7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      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: UniProtKB

    GO - Biological processi

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

    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

    BioCyciMetaCyc:HS10588-MONOMER.
    BRENDAi1.3.1.21. 2681.
    ReactomeiREACT_147904. Activation of gene expression by SREBF (SREBP).
    REACT_9405. Cholesterol biosynthesis.
    SABIO-RKQ9UBM7.
    UniPathwayiUPA00063.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    7-dehydrocholesterol reductase (EC:1.3.1.21)
    Short name:
    7-DHC reductase
    Alternative name(s):
    Putative sterol reductase SR-2
    Sterol Delta(7)-reductase
    Gene namesi
    Name:DHCR7
    Synonyms:D7SR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:2860. DHCR7.

    Subcellular locationi

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

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. endoplasmic reticulum membrane Source: Reactome
    3. integral component of membrane Source: UniProtKB-KW
    4. membrane Source: UniProtKB
    5. nuclear outer membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]: An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti51 – 511P → S in SLOS. 2 Publications
    VAR_012717
    Natural varianti68 – 681L → P in SLOS. 1 Publication
    VAR_023148
    Natural varianti93 – 931T → M in SLOS. 4 Publications
    VAR_012718
    Natural varianti99 – 991L → P in SLOS. 2 Publications
    VAR_012719
    Natural varianti107 – 1071Q → H in SLOS. 1 Publication
    VAR_023149
    Natural varianti109 – 1091L → P in SLOS. 2 Publications
    VAR_023150
    Natural varianti113 – 1131S → C in SLOS. 1 Publication
    VAR_023151
    Natural varianti119 – 1191H → L in SLOS. 2 Publications
    Corresponds to variant rs28938174 [ dbSNP | Ensembl ].
    VAR_012720
    Natural varianti138 – 1381G → V in SLOS. 1 Publication
    VAR_023152
    Natural varianti145 – 1451I → L in SLOS. 1 Publication
    VAR_023153
    Natural varianti147 – 1471G → D in SLOS. 1 Publication
    VAR_023154
    Natural varianti154 – 1541T → M in SLOS. 2 Publications
    VAR_023155
    Natural varianti157 – 1571L → P in SLOS. 2 Publications
    VAR_012721
    Natural varianti169 – 1691S → L in SLOS. 1 Publication
    VAR_023156
    Natural varianti182 – 1821W → C in SLOS. 1 Publication
    VAR_023157
    Natural varianti182 – 1821W → L in SLOS. 1 Publication
    VAR_023158
    Natural varianti183 – 1831C → Y in SLOS. 1 Publication
    VAR_023159
    Natural varianti198 – 1981K → E in SLOS. 1 Publication
    VAR_023160
    Natural varianti235 – 2351F → S in SLOS. 1 Publication
    VAR_023161
    Natural varianti242 – 2421R → C in SLOS. 2 Publications
    VAR_023162
    Natural varianti242 – 2421R → H in SLOS. 1 Publication
    VAR_023163
    Natural varianti244 – 2441G → R in SLOS. 2 Publications
    VAR_012722
    Natural varianti247 – 2471A → V in SLOS. 2 Publications
    VAR_012723
    Natural varianti248 – 2481W → C in SLOS. 2 Publications
    Corresponds to variant rs28939698 [ dbSNP | Ensembl ].
    VAR_012724
    Natural varianti255 – 2551F → L in SLOS. 1 Publication
    VAR_023164
    Natural varianti281 – 2811V → M in SLOS. 1 Publication
    VAR_023165
    Natural varianti289 – 2891T → I in SLOS. 2 Publications
    VAR_012725
    Natural varianti297 – 2971I → T in SLOS. 1 Publication
    VAR_023166
    Natural varianti311 – 3111C → G in SLOS. 1 Publication
    VAR_023167
    Natural varianti311 – 3111C → Y in SLOS. 1 Publication
    VAR_023168
    Natural varianti324 – 3241Y → H in SLOS. 1 Publication
    VAR_023169
    Natural varianti326 – 3261V → L in SLOS. 3 Publications
    VAR_012726
    Natural varianti344 – 3441G → R in SLOS. 1 Publication
    VAR_023170
    Natural varianti352 – 3521R → Q in SLOS. 1 Publication
    VAR_023171
    Natural varianti352 – 3521R → W in SLOS. 3 Publications
    VAR_012727
    Natural varianti353 – 3531V → A in SLOS. 1 Publication
    VAR_023172
    Natural varianti362 – 3621R → C in SLOS. 1 Publication
    VAR_023173
    Natural varianti380 – 3801C → R in SLOS. 1 Publication
    VAR_023174
    Natural varianti380 – 3801C → S in SLOS. 2 Publications
    VAR_012728
    Natural varianti380 – 3801C → Y in SLOS. 1 Publication
    VAR_023175
    Natural varianti397 – 3971S → L in SLOS. 1 Publication
    VAR_023176
    Natural varianti404 – 4041R → C in SLOS. 4 Publications
    VAR_012729
    Natural varianti404 – 4041R → S in SLOS. 1 Publication
    VAR_023177
    Natural varianti405 – 4051H → Y in SLOS. 1 Publication
    VAR_023178
    Natural varianti408 – 4081Y → H in SLOS. 2 Publications
    VAR_023179
    Natural varianti410 – 4101G → R in SLOS. 1 Publication
    VAR_023180
    Natural varianti410 – 4101G → S in SLOS. 2 Publications
    VAR_012730
    Natural varianti426 – 4261H → P in SLOS. 1 Publication
    VAR_023181
    Natural varianti443 – 4431R → C in SLOS. 1 Publication
    VAR_023182
    Natural varianti446 – 4461R → Q in SLOS. 1 Publication
    VAR_023183
    Natural varianti448 – 4481E → K in SLOS; mild. 2 Publications
    VAR_016975
    Natural varianti448 – 4481E → Q in SLOS. 1 Publication
    VAR_023184
    Natural varianti450 – 4501R → L in SLOS. 1 Publication
    VAR_023185

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi270400. phenotype.
    Orphaneti818. Smith-Lemli-Opitz syndrome.
    PharmGKBiPA27321.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 4754757-dehydrocholesterol reductasePRO_0000207502Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei14 – 141Phosphoserine5 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9UBM7.
    PaxDbiQ9UBM7.
    PeptideAtlasiQ9UBM7.
    PRIDEiQ9UBM7.

    PTM databases

    PhosphoSiteiQ9UBM7.

    Expressioni

    Tissue specificityi

    Most abundant in adrenal gland, liver, testis, and brain.1 Publication

    Gene expression databases

    ArrayExpressiQ9UBM7.
    BgeeiQ9UBM7.
    CleanExiHS_DHCR7.
    GenevestigatoriQ9UBM7.

    Organism-specific databases

    HPAiHPA044280.

    Interactioni

    Protein-protein interaction databases

    BioGridi108063. 6 interactions.
    IntActiQ9UBM7. 6 interactions.
    MINTiMINT-4651013.
    STRINGi9606.ENSP00000347717.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UBM7.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei40 – 6021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei154 – 17421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei177 – 19721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei266 – 28621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei306 – 32621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei331 – 35121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei420 – 44021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ERG4/ERG24 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG72042.
    HOGENOMiHOG000193296.
    HOVERGENiHBG007825.
    InParanoidiQ9UBM7.
    KOiK00213.
    OMAiFYIIYMT.
    PhylomeDBiQ9UBM7.
    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.

    Q9UBM7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA    50
    PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY 100
    TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA 150
    WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY 200
    FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL 250
    INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD 300
    HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI 350
    FRVANHQKDL FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW 400
    GVARHFNYVG DLMGSLAYCL ACGGGHLLPY FYIIYMAILL THRCLRDEHR 450
    CASKYGRDWE RYTAAVPYRL LPGIF 475
    Length:475
    Mass (Da):54,489
    Last modified:May 1, 2000 - v1
    Checksum:i7D726443834C4EEB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti14 – 141S → A in AAC18345. (PubMed:9634533)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti5 – 51S → L.2 Publications
    Corresponds to variant rs1127869 [ dbSNP | Ensembl ].
    VAR_067456
    Natural varianti51 – 511P → S in SLOS. 2 Publications
    VAR_012717
    Natural varianti68 – 681L → P in SLOS. 1 Publication
    VAR_023148
    Natural varianti93 – 931T → M in SLOS. 4 Publications
    VAR_012718
    Natural varianti99 – 991L → P in SLOS. 2 Publications
    VAR_012719
    Natural varianti107 – 1071Q → H in SLOS. 1 Publication
    VAR_023149
    Natural varianti109 – 1091L → P in SLOS. 2 Publications
    VAR_023150
    Natural varianti113 – 1131S → C in SLOS. 1 Publication
    VAR_023151
    Natural varianti119 – 1191H → L in SLOS. 2 Publications
    Corresponds to variant rs28938174 [ dbSNP | Ensembl ].
    VAR_012720
    Natural varianti138 – 1381G → V in SLOS. 1 Publication
    VAR_023152
    Natural varianti145 – 1451I → L in SLOS. 1 Publication
    VAR_023153
    Natural varianti147 – 1471G → D in SLOS. 1 Publication
    VAR_023154
    Natural varianti154 – 1541T → M in SLOS. 2 Publications
    VAR_023155
    Natural varianti157 – 1571L → P in SLOS. 2 Publications
    VAR_012721
    Natural varianti169 – 1691S → L in SLOS. 1 Publication
    VAR_023156
    Natural varianti182 – 1821W → C in SLOS. 1 Publication
    VAR_023157
    Natural varianti182 – 1821W → L in SLOS. 1 Publication
    VAR_023158
    Natural varianti183 – 1831C → Y in SLOS. 1 Publication
    VAR_023159
    Natural varianti198 – 1981K → E in SLOS. 1 Publication
    VAR_023160
    Natural varianti235 – 2351F → S in SLOS. 1 Publication
    VAR_023161
    Natural varianti242 – 2421R → C in SLOS. 2 Publications
    VAR_023162
    Natural varianti242 – 2421R → H in SLOS. 1 Publication
    VAR_023163
    Natural varianti244 – 2441G → R in SLOS. 2 Publications
    VAR_012722
    Natural varianti247 – 2471A → V in SLOS. 2 Publications
    VAR_012723
    Natural varianti248 – 2481W → C in SLOS. 2 Publications
    Corresponds to variant rs28939698 [ dbSNP | Ensembl ].
    VAR_012724
    Natural varianti255 – 2551F → L in SLOS. 1 Publication
    VAR_023164
    Natural varianti281 – 2811V → M in SLOS. 1 Publication
    VAR_023165
    Natural varianti289 – 2891T → I in SLOS. 2 Publications
    VAR_012725
    Natural varianti297 – 2971I → T in SLOS. 1 Publication
    VAR_023166
    Natural varianti311 – 3111C → G in SLOS. 1 Publication
    VAR_023167
    Natural varianti311 – 3111C → Y in SLOS. 1 Publication
    VAR_023168
    Natural varianti324 – 3241Y → H in SLOS. 1 Publication
    VAR_023169
    Natural varianti326 – 3261V → L in SLOS. 3 Publications
    VAR_012726
    Natural varianti344 – 3441G → R in SLOS. 1 Publication
    VAR_023170
    Natural varianti352 – 3521R → Q in SLOS. 1 Publication
    VAR_023171
    Natural varianti352 – 3521R → W in SLOS. 3 Publications
    VAR_012727
    Natural varianti353 – 3531V → A in SLOS. 1 Publication
    VAR_023172
    Natural varianti362 – 3621R → C in SLOS. 1 Publication
    VAR_023173
    Natural varianti380 – 3801C → R in SLOS. 1 Publication
    VAR_023174
    Natural varianti380 – 3801C → S in SLOS. 2 Publications
    VAR_012728
    Natural varianti380 – 3801C → Y in SLOS. 1 Publication
    VAR_023175
    Natural varianti397 – 3971S → L in SLOS. 1 Publication
    VAR_023176
    Natural varianti404 – 4041R → C in SLOS. 4 Publications
    VAR_012729
    Natural varianti404 – 4041R → S in SLOS. 1 Publication
    VAR_023177
    Natural varianti405 – 4051H → Y in SLOS. 1 Publication
    VAR_023178
    Natural varianti408 – 4081Y → H in SLOS. 2 Publications
    VAR_023179
    Natural varianti410 – 4101G → R in SLOS. 1 Publication
    VAR_023180
    Natural varianti410 – 4101G → S in SLOS. 2 Publications
    VAR_012730
    Natural varianti425 – 4251G → S.
    Corresponds to variant rs760242 [ dbSNP | Ensembl ].
    VAR_052154
    Natural varianti426 – 4261H → P in SLOS. 1 Publication
    VAR_023181
    Natural varianti443 – 4431R → C in SLOS. 1 Publication
    VAR_023182
    Natural varianti446 – 4461R → Q in SLOS. 1 Publication
    VAR_023183
    Natural varianti448 – 4481E → K in SLOS; mild. 2 Publications
    VAR_016975
    Natural varianti448 – 4481E → Q in SLOS. 1 Publication
    VAR_023184
    Natural varianti450 – 4501R → L in SLOS. 1 Publication
    VAR_023185

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF096305 mRNA. Translation: AAD09766.1.
    AF034544 mRNA. Translation: AAC05086.1.
    AF110060 Genomic DNA. Translation: AAD24762.1.
    AF067127 mRNA. Translation: AAD02816.1.
    AK312775 mRNA. Translation: BAG35639.1.
    BC000054 mRNA. Translation: AAH00054.1.
    AF062481 mRNA. Translation: AAC18345.1.
    CCDSiCCDS8200.1.
    RefSeqiNP_001157289.1. NM_001163817.1.
    NP_001351.2. NM_001360.2.
    UniGeneiHs.503134.

    Genome annotation databases

    EnsembliENST00000355527; ENSP00000347717; ENSG00000172893.
    ENST00000407721; ENSP00000384739; ENSG00000172893.
    GeneIDi1717.
    KEGGihsa:1717.
    UCSCiuc001oqk.3. human.

    Polymorphism databases

    DMDMi20138066.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF096305 mRNA. Translation: AAD09766.1 .
    AF034544 mRNA. Translation: AAC05086.1 .
    AF110060 Genomic DNA. Translation: AAD24762.1 .
    AF067127 mRNA. Translation: AAD02816.1 .
    AK312775 mRNA. Translation: BAG35639.1 .
    BC000054 mRNA. Translation: AAH00054.1 .
    AF062481 mRNA. Translation: AAC18345.1 .
    CCDSi CCDS8200.1.
    RefSeqi NP_001157289.1. NM_001163817.1.
    NP_001351.2. NM_001360.2.
    UniGenei Hs.503134.

    3D structure databases

    ProteinModelPortali Q9UBM7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108063. 6 interactions.
    IntActi Q9UBM7. 6 interactions.
    MINTi MINT-4651013.
    STRINGi 9606.ENSP00000347717.

    Chemistry

    ChEMBLi CHEMBL612409.
    DrugBanki DB00157. NADH.

    PTM databases

    PhosphoSitei Q9UBM7.

    Polymorphism databases

    DMDMi 20138066.

    Proteomic databases

    MaxQBi Q9UBM7.
    PaxDbi Q9UBM7.
    PeptideAtlasi Q9UBM7.
    PRIDEi Q9UBM7.

    Protocols and materials databases

    DNASUi 1717.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000355527 ; ENSP00000347717 ; ENSG00000172893 .
    ENST00000407721 ; ENSP00000384739 ; ENSG00000172893 .
    GeneIDi 1717.
    KEGGi hsa:1717.
    UCSCi uc001oqk.3. human.

    Organism-specific databases

    CTDi 1717.
    GeneCardsi GC11M071145.
    GeneReviewsi DHCR7.
    HGNCi HGNC:2860. DHCR7.
    HPAi HPA044280.
    MIMi 270400. phenotype.
    602858. gene.
    neXtProti NX_Q9UBM7.
    Orphaneti 818. Smith-Lemli-Opitz syndrome.
    PharmGKBi PA27321.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG72042.
    HOGENOMi HOG000193296.
    HOVERGENi HBG007825.
    InParanoidi Q9UBM7.
    KOi K00213.
    OMAi FYIIYMT.
    PhylomeDBi Q9UBM7.
    TreeFami TF101180.

    Enzyme and pathway databases

    UniPathwayi UPA00063 .
    BioCyci MetaCyc:HS10588-MONOMER.
    BRENDAi 1.3.1.21. 2681.
    Reactomei REACT_147904. Activation of gene expression by SREBF (SREBP).
    REACT_9405. Cholesterol biosynthesis.
    SABIO-RK Q9UBM7.

    Miscellaneous databases

    GeneWikii 7-Dehydrocholesterol_reductase.
    GenomeRNAii 1717.
    NextBioi 6956.
    PROi Q9UBM7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UBM7.
    Bgeei Q9UBM7.
    CleanExi HS_DHCR7.
    Genevestigatori Q9UBM7.

    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. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS SLOS LEU-119; ARG-244 AND CYS-248.
    2. "Molecular cloning and expression of the human delta7-sterol reductase."
      Moebius F.F., Fitzky B.U., Lee J.N., Paik Y.K., Glossmann H.
      Proc. Natl. Acad. Sci. U.S.A. 95:1899-1902(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION, VARIANT LEU-5.
      Tissue: Liver.
    3. "The human lamin B receptor/sterol reductase multigene family."
      Holmer L., Pezhman A., Worman H.J.
      Genomics 54:469-476(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    4. "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], VARIANT LEU-5.
      Tissue: Testis.
    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: Brain.
    6. "Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome."
      Wassif C.A., Maslen C., Kachilele-Linjewile S., Lin D., Linck L.M., Conner W.E., Steiner R.D., Porter F.D.
      Am. J. Hum. Genet. 63:55-62(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 14-475.
      Tissue: Liver.
    7. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "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: VARIANTS SLOS SER-51; MET-93; PRO-99; PRO-157; VAL-247; LEU-326; TRP-352; SER-380; CYS-404 AND SER-410.
    15. "Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome."
      Witsch-Baumgartner M., Fitzky B.U., Ogorelkova M., Kraft H.G., Moebius F.F., Glossmann H., Seedorf U., Gillessen-Kaesbach G., Hoffmann G.F., Clayton P., Kelley R.I., Utermann G.
      Am. J. Hum. Genet. 66:402-412(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SLOS SER-51; MET-93; PRO-99; HIS-107; PRO-109; ASP-147; MET-154; PRO-157; LEU-169; CYS-182; CYS-242; VAL-247; MET-281; ILE-289; GLY-311; TYR-311; HIS-324; LEU-326; GLN-352; TRP-352; ALA-353; CYS-362; TYR-380; ARG-380; SER-380; LEU-397; CYS-404; SER-404; HIS-408; SER-410; ARG-410; CYS-443; GLN-446; GLN-448; LYS-448 AND LEU-450.
    16. "Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping."
      Krakowiak P.A., Nwokoro N.A., Wassif C.A., Battaile K.P., Nowaczyk M.J.M., Connor W.E., Maslen C., Steiner R.D., Porter F.D.
      Am. J. Med. Genet. 94:214-227(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SLOS ILE-289.
    17. "Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome."
      Jira P.E., Wanders R.J.A., Smeitink J.A.M., De Jong J., Wevers R.A., Oostheim W., Tuerlings J.H.A.M., Hennekam R.C.M., Sengers R.C.A., Waterham H.R.
      Ann. Hum. Genet. 65:229-236(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SLOS MET-93; PRO-109; LEU-119; MET-154; LEU-182; TYR-183; GLU-198; HIS-242; ARG-244; CYS-248 AND LEU-255.
    18. "Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations."
      Witsch-Baumgartner M., Ciara E., Loffler J., Menzel H.J., Seedorf U., Burn J., Gillessen-Kaesbach G., Hoffmann G.F., Fitzky B.U., Mundy H., Clayton P., Kelley R.I., Krajewska-Walasek M., Utermann G.
      Eur. J. Hum. Genet. 9:45-50(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SLOS MET-93; LEU-326; TRP-352 AND CYS-404.
    19. Cited for: VARIANT SLOS LYS-448.
    20. "Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)."
      Waye J.S., Krakowiak P.A., Wassif C.A., Sterner A.L., Eng B., Nakamura L.M., Nowaczyk M.J.M., Porter F.D.
      Hum. Mutat. 26:59-59(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SLOS PRO-68; CYS-113; VAL-138; LEU-145; SER-235; CYS-242; THR-297; ARG-344; CYS-404; TYR-405; HIS-408 AND PRO-426.

    Entry informationi

    Entry nameiDHCR7_HUMAN
    AccessioniPrimary (citable) accession number: Q9UBM7
    Secondary accession number(s): B2R6Z2, O60492, O60717
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 31, 2002
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 140 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 11
      Human chromosome 11: 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

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