SC5DL

From Wikipedia, the free encyclopedia

Sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like

Identifiers

SC5DL; ERG3; S5DES; SC5D

External IDs

OMIM: 602286 MGI: 1353611 HomoloGene: 5044

Gene ontology
Molecular Function:	• C-5 sterol desaturase activity • iron ion binding • oxidoreductase activity
Cellular Component:	• endoplasmic reticulum • membrane • integral to membrane
Biological Process:	• lipid metabolic process • metabolic process • sterol biosynthetic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001024956 (mRNA)
NP_001020127 (protein)

NM_172769 (mRNA)
NP_766357 (protein)

Location

Chr 11: 120.67 - 120.68 Mb

Chr 9: 42.01 - 42.02 Mb

Pubmed search

[1]

[2]

Sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like, also known as SC5DL, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: SC5DL sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like.

[edit] Further reading

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. 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. 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. 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. PMID 8466936.
Matsushima M, Inazawa J, Takahashi E, et al. (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. PMID 8976377.
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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 15489334.