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Showing Protein Lathosterol oxidase (HMDBP00135)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 17 metabolites
Identification
HMDB Protein ID HMDBP00135
Secondary Accession Numbers
  • 5367
Name Lathosterol oxidase
Synonyms
  1. C-5 sterol desaturase
  2. Delta(7)-sterol 5-desaturase
  3. Lathosterol 5-desaturase
  4. Sterol-C5-desaturase
Gene Name SC5DL
Protein Type Unknown
Biological Properties
General Function Involved in iron ion binding
Specific Function Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.
Pathways
  • Alendronate Action Pathway
  • Atorvastatin Action Pathway
  • Cerivastatin Action Pathway
  • CHILD Syndrome
  • Cholesteryl ester storage disease
  • Chondrodysplasia Punctata II, X Linked Dominant (CDPX2)
  • Desmosterolosis
  • Fluvastatin Action Pathway
  • Hyper-IgD syndrome
  • Hypercholesterolemia
  • Ibandronate Action Pathway
  • Lovastatin Action Pathway
  • Lysosomal Acid Lipase Deficiency (Wolman Disease)
  • Mevalonic aciduria
  • Pamidronate Action Pathway
  • Pravastatin Action Pathway
  • Risedronate Action Pathway
  • Rosuvastatin Action Pathway
  • Simvastatin Action Pathway
  • Smith-Lemli-Opitz Syndrome (SLOS)
  • Steroid biosynthesis
  • Steroid Biosynthesis
  • Wolman disease
  • Zoledronate Action Pathway
Reactions
Lathosterol + NAD(P)H + Oxygen → 7-Dehydrocholesterol + NAD(P)(+) + Water details
Lathosterol + NADH + Hydrogen Ion + Oxygen → 7-Dehydrocholesterol + NAD + Water details
Lathosterol + NADPH + Hydrogen Ion + Oxygen → 7-Dehydrocholesterol + NADP + Water details
delta7-Avenasterol → 5-Dehydroavenasterol details
Episterol → 5-Dehydroepisterol details
Episterol + NADP → 5,7,24(28)-Ergostatrienol + NADPH + Hydrogen Ion details
GO Classification
Biological Process
cholesterol biosynthetic process
cholesterol biosynthetic process via lathosterol
fatty acid biosynthetic process
Cellular Component
endoplasmic reticulum membrane
integral to membrane
Component
endoplasmic reticulum
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
iron ion binding
oxidoreductase activity
Molecular Function
iron ion binding
C-5 sterol desaturase activity
lathosterol oxidase activity
Process
metabolic process
cellular metabolic process
organic acid metabolic process
oxoacid metabolic process
carboxylic acid metabolic process
monocarboxylic acid metabolic process
fatty acid metabolic process
fatty acid biosynthetic process
oxidation reduction
Cellular Location
  1. Endoplasmic reticulum membrane
  2. Multi-pass membrane protein (Probable)
Gene Properties
Chromosome Location 11
Locus 11q23.3
SNPs SC5DL
Gene Sequence 
>900 bp
ATGGATCTTGTACTCCGTGTTGCAGATTACTATTTTTTTACACCATACGTGTATCCAGCC
ACATGGCCAGAAGATGACATCTTCCGACAAGCTATTAGTCTTCTGATTGTAACAAATGTT
GGTGCTTACATCCTTTATTTCTTCTGTGCAACACTGAGCTATTATTTTGTCTTCGATCAT
GCATTAATGAAACATCCACAATTTTTAAAGAATCAAGTCCGTCGAGAGATTAAGTTTACT
GTCCAGGCATTGCCATGGATAAGTATTCTTACTGTTGCACTGTTCTTGCTGGAGATAAGA
GGTTACAGCAAATTACATGATGACCTAGGAGAGTTTCCATATGGATTGTTTGAACTTGTC
GTTAGTATAATATCTTTCCTCTTTTTCACTGACATGTTCATCTACTGGATTCACAGAGGC
CTTCATCATAGACTGGTATATAAGCGCCTACATAAACCTCACCATATTTGGAAGATTCCT
ACTCCATTTGCAAGTCATGCTTTTCACCCTATTGATGGCTTTCTTCAGAGTCTACCTTAC
CATATATACCCTTTTATCTTTCCATTACACAAGGTGGTTTATTTAAGTCTGTACATCTTG
GTTAATATCTGGACAATTTCCATTCATGACGGTGATTTTCGTGTCCCCCAAATCTTACAG
CCATTTATTAATGGCTCAGCTCATCATACAGACCACCATATGTTCTTTGACTATAATTAT
GGACAATATTTCACTTTGTGGGATAGGATTGGCGGCTCATTCAAAAATCCTTCATCCTTT
GAGGGGAAGGGACCGCTCAGTTATGTGAAGGAGATGACAGAGGGAAAGCGCAGCAGCCCT
TCAGGAAATGGCTGTAAGAATGAAAAATTATTCAATGGAGAGTTTACAAAGACTGAATAG
Protein Properties
Number of Residues 299
Molecular Weight 35300.55
Theoretical pI 8.074
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence 
>Lathosterol oxidase
MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDH
ALMKHPQFLKNQVRREIKFTVQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELV
VSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIPTPFASHAFHPIDGFLQSLPY
HIYPFIFPLHKVVYLSLYILVNIWTISIHDGDFRVPQILQPFINGSAHHTDHHMFFDYNY
GQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE
GenBank ID Protein 3721882
UniProtKB/Swiss-Prot ID O75845
UniProtKB/Swiss-Prot Entry Name SC5D_HUMAN
PDB IDs Not Available
GenBank Gene ID AB016247
GeneCard ID SC5DL
GenAtlas ID SC5DL
HGNC ID HGNC:10547
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Matsushima M, Inazawa J, Takahashi E, Suzumori K, Nakamura Y: Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase. Cytogenet Cell Genet. 1996;74(4):252-4. [PubMed:8976377 ]
  3. Husselstein T, Schaller H, Gachotte D, Benveniste P: Delta7-sterol-C5-desaturase: molecular characterization and functional expression of wild-type and mutant alleles. Plant Mol Biol. 1999 Mar;39(5):891-906. [PubMed:10344195 ]
  4. Nishi S, Nishino H, Ishibashi T: cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant. Biochim Biophys Acta. 2000 Jan 31;1490(1-2):106-8. [PubMed:10786622 ]
  5. Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G: Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet. 2002 Oct;71(4):952-8. Epub 2002 Aug 20. [PubMed:12189593 ]
  6. Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovarova M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD: Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Mol Genet. 2003 Jul 1;12(13):1631-41. [PubMed:12812989 ]