Sc5d sterol-C5-desaturase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sc5dprovided by MGI
Official Full Name: sterol-C5-desaturaseprovided by MGI
Primary source: MGI:MGI:1353611
See related: Ensembl:ENSMUSG00000032018 AllianceGenome:MGI:1353611
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sc5dl; A830037K02; A830073K23Rik
Summary: Predicted to enable C-5 sterol desaturase activity. Predicted to be involved in cholesterol biosynthetic process via lathosterol. Predicted to act upstream of or within steroid biosynthetic process. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in endoplasmic reticulum membrane. Is expressed in central nervous system; ganglia; gut; and liver lobe. Orthologous to human SC5D (sterol-C5-desaturase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in liver adult (RPKM 158.9), liver E18 (RPKM 37.8) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A5.1; 9 23.57 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (42162888..42175607, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (42251592..42264300, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data, including data from studies in heterozygotic transgenic/knockout mice, suggest that Sc5d plays essential role in ultraviolet radiation-induced vitamin D3 synthesis in keratinocytes/skin. Homozygotic deletion of Sc5d is lethal in utero.
Title: Attenuation of UVR-induced vitamin D(3) synthesis in a mouse model deleted for keratinocyte lathosterol 5-desaturase.
Data suggest that although cholesterol synthesis is impaired in both Dhcr7 mutant and Sc5d(-/-) embryonic brain, synthesis of nonsterol isoprenoids may be increased and thus contribute to Smith-Lemli-Opitz syndrome and lathosterolosis pathology.
Title: Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.
There were reduced nuclear levels of the lipogenic transcription factor sterol regulatory element binding protein-1 in MCD-fed mice, but no consistent reduction in fatty acid synthesis genes (acetyl-CoA carboxylase and fatty acid synthase).
Title: Hepatic free fatty acids accumulate in experimental steatohepatitis: role of adaptive pathways.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (1)
Spontaneous (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236104

Sc5d (e-PCR), detects polymorphism
- UniSTS:546983

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables C-5 sterol desaturase activity	IBA Inferred from Biological aspect of Ancestor more info
enables C-5 sterol desaturase activity	ISO Inferred from Sequence Orthology more info
enables delta7-sterol 5(6)-desaturase activity	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cholesterol biosynthetic process via lathosterol	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol biosynthetic process via lathosterol	ISO Inferred from Sequence Orthology more info
involved_in lipid biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within steroid biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within steroid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sterol biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: lathosterol oxidase

Names: C-5 sterol desaturase; delta(7)-sterol 5-desaturase; delta(7)-sterol C5(6)-desaturase; lathosterol 5-desaturase; sterol-C5-desaturase (fungal ERG3, delta-5-desaturase) homolog

NP_766357.1

EC 1.14.19.20

XP_006510316.1

EC 1.14.19.20

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_172769.2 → NP_766357.1 lathosterol oxidase

See identical proteins and their annotated locations for NP_766357.1

Status: VALIDATED

Source sequence(s)

AK077670, BY144795

Consensus CDS

CCDS23086.1

UniProtKB/Swiss-Prot

O88822, Q8BGI0

UniProtKB/TrEMBL

Q8R1S3

Related

ENSMUSP00000057354.8, ENSMUST00000052725.15

Conserved Domains (1) summary

COG3000
Location:40 → 257

ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

42162888..42175607 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006510253.3 → XP_006510316.1 lathosterol oxidase isoform X1

See identical proteins and their annotated locations for XP_006510316.1

UniProtKB/Swiss-Prot

O88822, Q8BGI0

UniProtKB/TrEMBL

Q8R1S3

Related

ENSMUSP00000130438.2, ENSMUST00000169609.2

Conserved Domains (1) summary

COG3000
Location:40 → 257

ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]