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O75845

- SC5D_HUMAN

UniProt

O75845 - SC5D_HUMAN

Protein

Lathosterol oxidase

Gene

SC5D

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.

    Catalytic activityi

    5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O2 = cholesta-5,7-dien-3-beta-ol + NAD(P)+ + 2 H2O.

    Cofactori

    Iron.By similarity

    GO - Molecular functioni

    1. C-5 sterol desaturase activity Source: ProtInc
    2. iron ion binding Source: InterPro
    3. lathosterol oxidase activity Source: UniProtKB-EC

    GO - Biological processi

    1. cholesterol biosynthetic process Source: Reactome
    2. cholesterol biosynthetic process via lathosterol Source: Ensembl
    3. fatty acid biosynthetic process Source: InterPro
    4. lipid metabolic process Source: ProtInc
    5. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

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

    Keywords - Ligandi

    Iron, NAD, NADP

    Enzyme and pathway databases

    BioCyciMetaCyc:HS03271-MONOMER.
    ReactomeiREACT_147904. Activation of gene expression by SREBF (SREBP).
    REACT_9405. Cholesterol biosynthesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lathosterol oxidase (EC:1.14.21.6)
    Alternative name(s):
    C-5 sterol desaturase
    Delta(7)-sterol 5-desaturase
    Lathosterol 5-desaturase
    Sterol-C5-desaturase
    Gene namesi
    Name:SC5D
    Synonyms:SC5DL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:10547. SC5D.

    Subcellular locationi

    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

    Involvement in diseasei

    Lathosterolosis (LATHST) [MIM:607330]: Autosomal recessive disorder characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti29 – 291R → Q in LATHST. 1 Publication
    VAR_014423
    Natural varianti46 – 461Y → S in LATHST. 1 Publication
    VAR_020829
    Natural varianti211 – 2111G → D in LATHST. 1 Publication
    VAR_014424

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi607330. phenotype.
    Orphaneti46059. Lathosterolosis.
    PharmGKBiPA34957.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 299299Lathosterol oxidasePRO_0000117028Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei253 – 2531Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO75845.
    PRIDEiO75845.

    PTM databases

    PhosphoSiteiO75845.

    Expressioni

    Gene expression databases

    ArrayExpressiO75845.
    BgeeiO75845.
    CleanExiHS_SC5DL.
    GenevestigatoriO75845.

    Interactioni

    Protein-protein interaction databases

    BioGridi112216. 1 interaction.
    STRINGi9606.ENSP00000264027.

    Structurei

    3D structure databases

    ProteinModelPortaliO75845.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei32 – 5221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei79 – 9921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei117 – 13721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei186 – 20621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi138 – 1436Histidine box-1
    Motifi151 – 1555Histidine box-2
    Motifi228 – 2336Histidine box-3

    Domaini

    The histidine box domains may contain the active site and/or be involved in metal ion binding.

    Sequence similaritiesi

    Belongs to the sterol desaturase family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG3000.
    HOGENOMiHOG000200579.
    HOVERGENiHBG012628.
    InParanoidiO75845.
    KOiK00227.
    OMAiFFCATLS.
    OrthoDBiEOG7NSB2T.
    PhylomeDBiO75845.
    TreeFamiTF300797.

    Family and domain databases

    InterProiIPR006694. Fatty_acid_hydroxylase.
    [Graphical view]
    PfamiPF04116. FA_hydroxylase. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O75845-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDLVLRVADY YFFTPYVYPA TWPEDDIFRQ AISLLIVTNV GAYILYFFCA    50
    TLSYYFVFDH ALMKHPQFLK NQVRREIKFT VQALPWISIL TVALFLLEIR 100
    GYSKLHDDLG EFPYGLFELV VSIISFLFFT DMFIYWIHRG LHHRLVYKRL 150
    HKPHHIWKIP TPFASHAFHP IDGFLQSLPY HIYPFIFPLH KVVYLSLYIL 200
    VNIWTISIHD GDFRVPQILQ PFINGSAHHT DHHMFFDYNY GQYFTLWDRI 250
    GGSFKNPSSF EGKGPLSYVK EMTEGKRSSH SGNGCKNEKL FNGEFTKTE 299
    Length:299
    Mass (Da):35,301
    Last modified:January 23, 2007 - v2
    Checksum:i9EF8B20D522FAA56
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti216 – 29984PQILQ…FTKTE → RMKNYSMESLQRLNRLLPSY S in BAA18970. (PubMed:8976377)CuratedAdd
    BLAST
    Sequence conflicti280 – 2801H → P in BAA33729. (PubMed:10786622)Curated
    Sequence conflicti280 – 2801H → P in BAB68218. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti29 – 291R → Q in LATHST. 1 Publication
    VAR_014423
    Natural varianti46 – 461Y → S in LATHST. 1 Publication
    VAR_020829
    Natural varianti211 – 2111G → D in LATHST. 1 Publication
    VAR_014424

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D85181 mRNA. Translation: BAA18970.1.
    AF187981 mRNA. Translation: AAF00544.1.
    AB016247 mRNA. Translation: BAA33729.1.
    AB057650 Genomic DNA. Translation: BAB68218.1.
    AK312634 mRNA. Translation: BAG35518.1.
    AK222686 mRNA. Translation: BAD96406.1.
    AK223141 mRNA. Translation: BAD96861.1.
    CH471065 Genomic DNA. Translation: EAW67520.1.
    BC012333 mRNA. Translation: AAH12333.1.
    BC050427 mRNA. Translation: AAH50427.1.
    CCDSiCCDS8435.1.
    RefSeqiNP_001020127.1. NM_001024956.2.
    NP_008849.2. NM_006918.4.
    UniGeneiHs.287749.

    Genome annotation databases

    EnsembliENST00000264027; ENSP00000264027; ENSG00000109929.
    ENST00000392789; ENSP00000376539; ENSG00000109929.
    GeneIDi6309.
    KEGGihsa:6309.
    UCSCiuc001pxu.3. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D85181 mRNA. Translation: BAA18970.1 .
    AF187981 mRNA. Translation: AAF00544.1 .
    AB016247 mRNA. Translation: BAA33729.1 .
    AB057650 Genomic DNA. Translation: BAB68218.1 .
    AK312634 mRNA. Translation: BAG35518.1 .
    AK222686 mRNA. Translation: BAD96406.1 .
    AK223141 mRNA. Translation: BAD96861.1 .
    CH471065 Genomic DNA. Translation: EAW67520.1 .
    BC012333 mRNA. Translation: AAH12333.1 .
    BC050427 mRNA. Translation: AAH50427.1 .
    CCDSi CCDS8435.1.
    RefSeqi NP_001020127.1. NM_001024956.2.
    NP_008849.2. NM_006918.4.
    UniGenei Hs.287749.

    3D structure databases

    ProteinModelPortali O75845.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112216. 1 interaction.
    STRINGi 9606.ENSP00000264027.

    PTM databases

    PhosphoSitei O75845.

    Proteomic databases

    PaxDbi O75845.
    PRIDEi O75845.

    Protocols and materials databases

    DNASUi 6309.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264027 ; ENSP00000264027 ; ENSG00000109929 .
    ENST00000392789 ; ENSP00000376539 ; ENSG00000109929 .
    GeneIDi 6309.
    KEGGi hsa:6309.
    UCSCi uc001pxu.3. human.

    Organism-specific databases

    CTDi 6309.
    GeneCardsi GC11P121163.
    HGNCi HGNC:10547. SC5D.
    MIMi 602286. gene.
    607330. phenotype.
    neXtProti NX_O75845.
    Orphaneti 46059. Lathosterolosis.
    PharmGKBi PA34957.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG3000.
    HOGENOMi HOG000200579.
    HOVERGENi HBG012628.
    InParanoidi O75845.
    KOi K00227.
    OMAi FFCATLS.
    OrthoDBi EOG7NSB2T.
    PhylomeDBi O75845.
    TreeFami TF300797.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS03271-MONOMER.
    Reactomei REACT_147904. Activation of gene expression by SREBF (SREBP).
    REACT_9405. Cholesterol biosynthesis.

    Miscellaneous databases

    ChiTaRSi SC5DL. human.
    GeneWikii Sterol-C5-desaturase-like.
    GenomeRNAii 6309.
    NextBioi 24491.
    PROi O75845.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75845.
    Bgeei O75845.
    CleanExi HS_SC5DL.
    Genevestigatori O75845.

    Family and domain databases

    InterProi IPR006694. Fatty_acid_hydroxylase.
    [Graphical view ]
    Pfami PF04116. FA_hydroxylase. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and mapping of a human cDNA(SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase."
      Matsushima M., Inazawa J., Takahashi E., Suzumori K., Nakamura Y.
      Cytogenet. Cell Genet. 74:252-254(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Delta7-sterol-C5-desaturase: molecular characterization and functional expression of wild-type and mutant alleles."
      Husselstein T., Schaller H., Gachotte D., Benveniste P.
      Plant Mol. Biol. 39:891-906(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: B-cell.
    3. "cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant."
      Nishi S., Nishino H., Ishibashi T.
      Biochim. Biophys. Acta 1490:106-108(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Liver.
    4. "Human sterol C5 desaturase promoter."
      Sugawara T.
      Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "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].
    6. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain and Kidney.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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: Lung.
    9. "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-253, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase."
      Brunetti-Pierri N., Corso G., Rossi M., Ferrari P., Balli F., Rivasi F., Annunziata I., Ballabio A., Dello Russo A., Andria G., Parenti G.
      Am. J. Hum. Genet. 71:952-958(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LATHST GLN-29 AND ASP-211.
    11. "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency."
      Krakowiak P.A., Wassif C.A., Kratz L., Cozma D., Kovarova M., Harris G., Grinberg A., Yang Y., Hunter A.G.W., Tsokos M., Kelley R.I., Porter F.D.
      Hum. Mol. Genet. 12:1631-1641(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LATHST SER-46.

    Entry informationi

    Entry nameiSC5D_HUMAN
    AccessioniPrimary (citable) accession number: O75845
    Secondary accession number(s): O00119, Q6GTM5, Q9UK15
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 129 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 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3