SC5D (sterol-C5-desaturase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6309
Gene name Sterol-C5-desaturase
Gene symbol SC5D
Synonyms (NCBI Gene)
ERG3S5DESSC5DL
Chromosome 11
Chromosome location 11q23.3-q24.1
Summary 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 enc
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs104894295 G>A Pathogenic Missense variant, coding sequence variant
rs104894296 G>A Pathogenic Missense variant, coding sequence variant
rs104894297 A>C,G Pathogenic Missense variant, coding sequence variant
rs1313359281 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
198
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (198)
miRTarBase ID miRNA Experiments Reference
MIRT018994 hsa-miR-335-5p Microarray 18185580
MIRT023105 hsa-miR-124-3p Microarray 18668037
MIRT052122 hsa-let-7b-5p CLASH 23622248
MIRT038773 hsa-miR-93-3p CLASH 23622248
MIRT637867 hsa-miR-508-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0000248 Function C-5 sterol desaturase activity EXP 12189593, 12812989
GO:0000248 Function C-5 sterol desaturase activity IBA
GO:0000248 Function C-5 sterol desaturase activity IEA
GO:0005506 Function Iron ion binding IEA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602286 10547 ENSG00000109929
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75845
Protein name Lathosterol oxidase (EC 1.14.19.20) (C-5 sterol desaturase) (Delta(7)-sterol 5-desaturase) (Delta(7)-sterol C5(6)-desaturase) (Lathosterol 5-desaturase) (Sterol-C5-desaturase)
Protein function Catalyzes the penultimate step of the biosynthesis of cholesterol, the dehydrogenation of lathosterol into 7-dehydrocholesterol (7-DHC). Cholesterol is the major sterol component in mammalian membranes and a precursor for bile acid and steroid h
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04116 FA_hydroxylase 123 → 253 Fatty acid hydroxylase superfamily Family
Sequence 
MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDH
ALMKHPQFLKNQVRREIKFTVQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELV
VSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIPTPFASHAFHPIDGFLQSLPY
HIYPFIFPLHKVVYLSLYILVNIWTISIHDGDFRVPQILQPFINGSAHHTDHHMFFDYNY
GQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE
Sequence length 299
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Steroid biosynthesis
Metabolic pathways 		  Activation of gene expression by SREBF (SREBP)
Cholesterol biosynthesis via desmosterol
Cholesterol biosynthesis via lathosterol
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
143
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lathosterolosis Likely pathogenic; Pathogenic rs104894295, rs104894296, rs104894297, rs760167278, rs1947971579 RCV000007779
RCV000007780
RCV000007781
RCV001171520
RCV001171521
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Conflicting classifications of pathogenicity rs570720353 RCV005913685
SC5D-related disorder Likely benign rs114578771 RCV003910822
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 37491786
Intellectual Disability Associate 12189593
Lathosterolosis Associate 12189593