Sterol-C5-desaturase-like

Sterol-C5-desaturase

Identifiers

SC5D ; ERG3; S5DES; SC5DL

External IDs

OMIM: 602286 MGI: 1353611 HomoloGene: 5044 GeneCards: SC5D Gene

1.14.21.6

Gene ontology
Molecular function	• C-5 sterol desaturase activity • iron ion binding • lathosterol oxidase activity
Cellular component	• endoplasmic reticulum membrane • integral component of membrane
Biological process	• lipid metabolic process • fatty acid biosynthetic process • cholesterol biosynthetic process • cholesterol biosynthetic process via lathosterol • small molecule metabolic process • oxidation-reduction process
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 11:
121.29 – 121.31 Mb

Chr 9:
42.25 – 42.26 Mb

PubMed search

Lathosterol oxidase is an enzyme that in humans is encoded by the SC5DL gene.^[1]^[2]

This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described.^[2]

References

↑ Matsushima M, Inazawa J, Takahashi E, Suzumori K, Nakamura Y (Jan 1997). "Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase". Cytogenet Cell Genet 74 (4): 252–4. doi:10.1159/000134427. PMID 8976377.
1 2 "Entrez Gene: SC5DL sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like".

Shefer S, Salen G, Batta AK, et al. (1995). "Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.". J. Clin. Invest. 96 (4): 1779–85. doi:10.1172/JCI118223. PMC 185814. PMID 7560069.
Ves-Losada A, Brenner RR (1995). "Fatty acid delta 5 desaturation in rat liver cell nuclei.". Mol. Cell. Biochem. 142 (2): 163–70. doi:10.1007/BF00928937. PMID 7770068.
Takakuwa Y, Nishino H, Ishibe Y, Ishibashi T (1994). "Properties and kinetics of membrane-bound enzymes when both the enzyme and substrate are components of the same microsomal membrane. Studies on lathosterol 5-desaturase.". J. Biol. Chem. 269 (45): 27889–93. PMID 7961720.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Poisson JP, Dupuy RP, Sarda P, et al. (1993). "Evidence that liver microsomes of human neonates desaturate essential fatty acids.". Biochim. Biophys. Acta 1167 (2): 109–13. doi:10.1016/0005-2760(93)90149-4. PMID 8466936.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Husselstein T, Schaller H, Gachotte D, Benveniste P (1999). "Delta7-sterol-C5-desaturase: molecular characterization and functional expression of wild-type and mutant alleles.". Plant Mol. Biol. 39 (5): 891–906. doi:10.1023/A:1006113919172. PMID 10344195.
Cho HP, Nakamura M, Clarke SD (2000). "Cloning, expression, and fatty acid regulation of the human delta-5 desaturase.". J. Biol. Chem. 274 (52): 37335–9. doi:10.1074/jbc.274.52.37335. PMID 10601301.
Leonard AE, Kelder B, Bobik EG, et al. (2000). "cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid.". Biochem. J. 347 Pt 3: 719–24. doi:10.1042/0264-6021:3470719. PMC 1221008. PMID 10769175.
Nishi S, Nishino H, Ishibashi T (2000). "cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant.". Biochim. Biophys. Acta 1490 (1-2): 106–8. doi:10.1016/s0167-4781(99)00248-1. PMID 10786622.
Sugawara T, Fujimoto Y, Ishibashi T (2001). "Molecular cloning and structural analysis of human sterol C5 desaturase.". Biochim. Biophys. Acta 1533 (3): 277–84. doi:10.1016/s1388-1981(01)00160-3. PMID 11731337.
Brunetti-Pierri N, Corso G, Rossi M, et al. (2002). "Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.". Am. J. Hum. Genet. 71 (4): 952–8. doi:10.1086/342668. PMC 378549. PMID 12189593.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Krakowiak PA, Wassif CA, Kratz L, et al. (2004). "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.". Hum. Mol. Genet. 12 (13): 1631–41. doi:10.1093/hmg/ddg172. PMID 12812989.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.

Oxidoreductases: CH–CH oxidoreductases (EC 1.3)

1.3.1: NAD/NADP acceptor	Enoyl-acyl carrier protein reductase/Enoyl ACP reductase 7-Dehydrocholesterol reductase Biliverdin reductase 2,4 Dienoyl-CoA reductase Dihydroxymethyloxo-tetrahydroquinoline dehydrogenase

1.3.3: Oxygen acceptor	Dihydroorotate dehydrogenase Coproporphyrinogen III oxidase Protoporphyrinogen oxidase Bilirubin oxidase Acyl-CoA oxidase Dihydrouracil oxidase Tetrahydroberberine oxidase Secologanin synthase Tryptophan alpha,beta-oxidase Pyrroloquinoline-quinone synthase L-galactonolactone oxidase

1.3.5: Quinone	Succinate dehydrogenase SDHA SDHB SDHC SDHD

1.3.99: Other acceptors	Fumarate reductase Butyryl-CoA dehydrogenase Acyl CoA dehydrogenase ACADSB ACADS 5α-reductase SRD5A1 SRD5A2 SRD5A3 Glutaryl-CoA dehydrogenase Isovaleryl coenzyme A dehydrogenase 3-oxo-5beta-steroid 4-dehydrogenase

Metabolism: lipid metabolism – ketones/cholesterol synthesis enzymes/steroid metabolism

Mevalonate pathway

To HMG-CoA	Acetyl-Coenzyme A acetyltransferase HMG-CoA synthase (regulated step)

Ketogenesis	HMG-CoA lyase 3-hydroxybutyrate dehydrogenase Thiophorase

To Mevalonic acid	HMG-CoA reductase

To DMAPP	Mevalonate kinase Phosphomevalonate kinase Pyrophosphomevalonate decarboxylase Isopentenyl-diphosphate delta isomerase

Geranyl-	Dimethylallyltranstransferase Geranyl pyrophosphate

To cholesterol

To lanosterol	Farnesyl-diphosphate farnesyltransferase Squalene monooxygenase Lanosterol synthase

7-Dehydrocholesterol path	Lanosterol 14α-demethylase Sterol-C5-desaturase-like 7-Dehydrocholesterol reductase

Desmosterol path	24-dehydrocholesterol reductase

To Bile acids

Steroidogenesis

To pregnenolone

Side-chain cleavage

To corticosteroids

aldosterone: 18-hydroxylase

To sex hormones

To androgens	17α-hydroxylase/17,20 lyase 3β dehydrogenase 17β dehydrogenase 5α reductase 1 2

To estrogens	Aromatase

Other/ungrouped

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Sterol-C5-desaturase-like

References

Further reading