Sterol-C5-desaturase-like

SC5D

Identifiers

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

External IDs

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

Gene location (Human)

Chr.	Chromosome 11 (human)^[1]

Band	11q23.3-q24.1	Start	121,292,681 bp^[1]
Band	11q23.3-q24.1	End	121,313,410 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 9 (mouse)^[2]

Band	9\|9 A5.1	Start	42,162,891 bp^[2]
Band	9\|9 A5.1	End	42,175,552 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

pons

right lobe of liver

corpus epididymis

seminal vesicula

jejunal mucosa

islet of Langerhans

superior vestibular nucleus

vulva

ganglionic eminence

retinal pigment epithelium

Top expressed in

left lobe of liver

seminal vesicula

jejunum

epithelium of stomach

anterior horn of spinal cord

white adipose tissue

calvaria

esophagus

subcutaneous adipose tissue

ileum

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	iron ion binding oxidoreductase activity delta7-sterol 5(6)-desaturase 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 cholesterol biosynthetic process via desmosterol lipid metabolism 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 9: 42.16 – 42.18 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Lathosterol oxidase is a Δ7-sterol 5(6)-desaturase enzyme that in humans is encoded by the SC5D 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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000109929 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032018 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "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. S2CID 43739588.
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. doi:10.1016/S0021-9258(18)46870-6. 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. S2CID 5643392.
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 (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. Bibcode:2002PNAS...9916899M. 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.

v t e 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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This page was last edited on 4 March 2023, at 00:52

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References

Further reading