Sterol-C5-desaturase-like

SC5D

Identifiers

SC5D, ERG3, S5DES, SC5DL, Sterol-C5-desaturase-like, sterol-C5-desaturase

External IDs

MGI: 1353611 HomoloGene: 5044 GeneCards: SC5D

Gene location (Human)

Chr.	Chromosome 11 (human)^[1]

Band	No data available	Start	121,292,453 bp^[1]
Band	No data available	End	121,308,694 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 9 (mouse)^[2]

Band	No data available	Start	42,251,595 bp^[2]
Band	No data available	End	42,264,256 bp^[2]

RNA expression pattern

More reference expression data

Gene ontology
Molecular function	• iron ion binding • oxidoreductase activity • lathosterol oxidase activity • C-5 sterol desaturase activity
Cellular component	• integral component of membrane • endoplasmic reticulum • membrane • intracellular membrane-bounded organelle • endoplasmic reticulum membrane
Biological process	• steroid metabolic process • sterol biosynthetic process • oxidation-reduction process • cholesterol biosynthetic process via desmosterol • lipid metabolic process • steroid biosynthetic process • cholesterol biosynthetic process via lathosterol • lipid biosynthetic process • regulation of cholesterol biosynthetic process
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


6309


235293

Ensembl


ENSG00000109929


ENSMUSG00000032018

UniProt


O75845


O88822

RefSeq (mRNA)


NM_006918 NM_001024956


NM_172769

RefSeq (protein)


NP_001020127 NP_008849


NP_766357

Location (UCSC)

Chr 11: 121.29 – 121.31 Mb

Chr 11: 42.25 – 42.26 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Lathosterol oxidase is an enzyme that in humans is encoded by the SC5DL gene.^[5]^[6]

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.^[6]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000109929 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032018 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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. PMID 8976377. doi:10.1159/000134427.
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. PMC 185814 . PMID 7560069. doi:10.1172/JCI118223.
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. doi:10.1007/BF00928937.
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. doi:10.1016/0378-1119(94)90802-8.
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. doi:10.1016/0005-2760(93)90149-4.
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. doi:10.1016/S0378-1119(97)00411-3.
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. doi:10.1023/A:1006113919172.
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. doi:10.1074/jbc.274.52.37335.
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. PMC 1221008 . PMID 10769175. doi:10.1042/0264-6021:3470719.
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. doi:10.1016/s0167-4781(99)00248-1.
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. doi:10.1016/s1388-1981(01)00160-3.
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. PMC 378549 . PMID 12189593. doi:10.1086/342668.
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
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. doi:10.1093/hmg/ddg172.
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. PMID 14702039. doi:10.1038/ng1285.
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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.

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

Cholesterol side-chain cleavage

To corticosteroids

aldosterone: 18-Hydroxylase

cortisol/cortisone: 17α-Hydroxylase
11β-HSD
- 1
- 2

To sex hormones

To androgens	17α-Hydroxylase 17,20-Lyase 3β-HSD 17β-HSD 5α-Reductase 1 2
To estrogens	Aromatase 17β-HSD

Other/ungrouped

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Sterol-C5-desaturase-like

References

Further reading