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Aliases for SC5D Gene

Aliases for SC5D Gene

  • Sterol-C5-Desaturase 2 3 4 5
  • Sterol-C5-Desaturase (ERG3 Delta-5-Desaturase Homolog, S. Cerevisiae)-Like 2 3
  • Delta(7)-Sterol C5(6)-Desaturase 3 4
  • Delta(7)-Sterol 5-Desaturase 3 4
  • Lathosterol 5-Desaturase 3 4
  • C-5 Sterol Desaturase 3 4
  • Lathosterol Oxidase 2 3
  • SC5DL 3 4
  • Sterol-C5-Desaturase (ERG3 Delta-5-Desaturase Homolog, Fungal)-Like 2
  • Sterol-C5-Desaturase (Fungal ERG3, Delta-5-Desaturase)-Like 2
  • 3beta-Hydroxysteroid-Delta5-Desaturase 3
  • Fungal ERG3, Delta-5-Desaturase-Like 3
  • Lathosterol Dehydrogenase 3
  • EC 4
  • S5DES 3
  • ERG3 3

External Ids for SC5D Gene

Previous HGNC Symbols for SC5D Gene

  • SC5DL

Previous GeneCards Identifiers for SC5D Gene

  • GC11P121163

Summaries for SC5D Gene

Entrez Gene Summary for SC5D Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for SC5D Gene

SC5D (Sterol-C5-Desaturase) is a Protein Coding gene. Diseases associated with SC5D include Lathosterolosis and Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis. Among its related pathways are Metabolism and cholesterol biosynthesis I. GO annotations related to this gene include oxidoreductase activity and C-5 sterol desaturase activity.

UniProtKB/Swiss-Prot for SC5D Gene

  • Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.

Gene Wiki entry for SC5D Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SC5D Gene

Genomics for SC5D Gene

Regulatory Elements for SC5D Gene

Enhancers for SC5D Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F121248 1.2 Ensembl ENCODE 17.9 -43.3 -43330 1.0 CTCF ZNF654 SMC3 TRIM22 RAD21 SC5D LOC105369534 RPS4XP12
GH11F121319 0.6 Ensembl ENCODE 11.6 +27.0 27048 0.6 ZNF263 CTCF ZNF654 WRNIP1 MAX TRIM22 FEZF1 ZNF2 RAD21 SMC3 LOC105369536 SORL1 SC5D GC11M121292 GC11M121336
GH11F121594 1.1 Ensembl ENCODE 11.3 +303.7 303701 2.9 HDGF PKNOX1 ZFP64 SIN3A ARID4B YY1 GLIS2 ZNF143 FOS JUNB SC5D LOC105369536 SORL1 GC11P121607 GC11P121528
GH11F121508 0.5 ENCODE 11.1 +216.2 216163 1.1 CTCF RAD21 SORL1 LOC105369536 SC5D GC11M121501 GC11P121509
GH11F121393 0.2 Ensembl 11 +101.9 101948 1.6 SOX13 CTCF SOX5 PKNOX1 EED SORL1 LOC105369536 SC5D GC11P121409 BMPR1APS2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SC5D on UCSC Golden Path with GeneCards custom track

Promoters for SC5D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000570181 747 2801 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS KLF13 SP3 SP5

Genomic Location for SC5D Gene

121,292,453 bp from pter
121,313,410 bp from pter
20,958 bases
Plus strand

Genomic View for SC5D Gene

Genes around SC5D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SC5D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SC5D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SC5D Gene

Proteins for SC5D Gene

  • Protein details for SC5D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Lathosterol oxidase
    Protein Accession:
    Secondary Accessions:
    • O00119
    • Q6GTM5
    • Q9UK15

    Protein attributes for SC5D Gene

    299 amino acids
    Molecular mass:
    35301 Da
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available

neXtProt entry for SC5D Gene

Post-translational modifications for SC5D Gene

  • Ubiquitination at Lys 255, Lys 263, and Lys 297
  • Modification sites at PhosphoSitePlus

Other Protein References for SC5D Gene

No data available for DME Specific Peptides for SC5D Gene

Domains & Families for SC5D Gene

Gene Families for SC5D Gene

Protein Domains for SC5D Gene


Graphical View of Domain Structure for InterPro Entry



  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Belongs to the sterol desaturase family.
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Belongs to the sterol desaturase family.
genes like me logo Genes that share domains with SC5D: view

Function for SC5D Gene

Molecular function for SC5D Gene

UniProtKB/Swiss-Prot CatalyticActivity:
A Delta(7)-sterol + 2 ferrocytochrome b5 + O(2) + 2 H(+) = a Delta(5,7)-sterol + 2 ferricytochrome b5 + 2 H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.

Enzyme Numbers (IUBMB) for SC5D Gene

Gene Ontology (GO) - Molecular Function for SC5D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000248 C-5 sterol desaturase activity EXP 12189593
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0050046 lathosterol oxidase activity IBA --
genes like me logo Genes that share ontologies with SC5D: view
genes like me logo Genes that share phenotypes with SC5D: view

Human Phenotype Ontology for SC5D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SC5D Gene

MGI Knock Outs for SC5D:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for SC5D Gene

Localization for SC5D Gene

Subcellular locations from UniProtKB/Swiss-Prot for SC5D Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for SC5D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IBA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with SC5D: view

No data available for Subcellular locations from COMPARTMENTS for SC5D Gene

Pathways & Interactions for SC5D Gene

genes like me logo Genes that share pathways with SC5D: view

Gene Ontology (GO) - Biological Process for SC5D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA,TAS 8976377
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0008202 steroid metabolic process IEA --
GO:0016126 sterol biosynthetic process IEA --
genes like me logo Genes that share ontologies with SC5D: view

No data available for SIGNOR curated interactions for SC5D Gene

Drugs & Compounds for SC5D Gene

(7) Drugs for SC5D Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
Flavin Mononucleotide Experimental Pharma 6
NAD Pharma Full agonist, Agonist 0

(14) Additional Compounds for SC5D Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (-)-7-dehydrocholesterol
  • (3b)-Cholesta-5,7-dien-3-ol
  • (3beta)-Cholesta-5,7-dien-3-ol
  • 10,13-Dimethyl-17-(6-methylheptan-2-yl)-2,3,4,9,11,12,14,15,16,17-decahydro-1H-cyclopenta[a]phenanthren-3-ol
  • 17-(1,5-Dimethylhexyl)-10,13-dimethyl-2,3,4,9,10,11,12,13,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-ol
  • (3beta)-Cholest-7-en-3-ol
  • (3beta,5alpha)-Cholest-7-en-3-ol
  • (3beta,alpha)-Cholest-7-en-3-ol
  • (7)-Cholestenol
  • 3b-Hydroxy-5-cholestene
  • Campesta-7,24(28)-dien-3beta-ol
  • Ergosta-5,7,24(28)-trien-3beta-ol
genes like me logo Genes that share compounds with SC5D: view

Transcripts for SC5D Gene

Unigene Clusters for SC5D Gene

Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SC5D Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b
SP1: -
SP2: - -

Relevant External Links for SC5D Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SC5D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SC5D Gene

mRNA differential expression in normal tissues according to GTEx for SC5D Gene

This gene is overexpressed in Liver (x5.5).

Protein differential expression in normal tissues from HIPED for SC5D Gene

This gene is overexpressed in Fetal testis (28.0), Gallbladder (13.1), and Adrenal (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SC5D Gene

NURSA nuclear receptor signaling pathways regulating expression of SC5D Gene:


SOURCE GeneReport for Unigene cluster for SC5D Gene:

genes like me logo Genes that share expression patterns with SC5D: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SC5D Gene

Orthologs for SC5D Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SC5D Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SC5DL 34
  • 99.22 (n)
SC5D 35
  • 98 (a)
(Canis familiaris)
Mammalia SC5D 34 35
  • 88.07 (n)
(Bos Taurus)
Mammalia SC5DL 35
  • 83 (a)
(Mus musculus)
Mammalia Sc5d 34 16 35
  • 80.82 (n)
(Rattus norvegicus)
Mammalia Sc5d 34
  • 79.93 (n)
(Ornithorhynchus anatinus)
Mammalia SC5D 35
  • 75 (a)
(Monodelphis domestica)
Mammalia SC5D 35
  • 74 (a)
(Gallus gallus)
Aves SC5D 35
  • 67 (a)
SC5DL 34
  • 64.47 (n)
(Anolis carolinensis)
Reptilia SC5D 35
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490845 34
  • 68.05 (n)
(Danio rerio)
Actinopterygii sc5d 34 35
  • 66.22 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08855g 34
  • 54.1 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG3 34 35 37
  • 52.54 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR151C 34
  • 50.83 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G02590 34
  • 53.22 (n)
(Oryza sativa)
Liliopsida Os01g0134500 34
  • 46.25 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg31 34
  • 55.6 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06207 34
  • 53.85 (n)
Species where no ortholog for SC5D was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SC5D Gene

Gene Tree for SC5D (if available)
Gene Tree for SC5D (if available)

Paralogs for SC5D Gene

No data available for Paralogs for SC5D Gene

Variants for SC5D Gene

Sequence variations from dbSNP and Humsavar for SC5D Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs104894295 Lathosterolosis (LATHST) [MIM:607330], Pathogenic 121,303,461(+) CTTCC(A/G)ACAAG reference, missense
rs104894296 Lathosterolosis (LATHST) [MIM:607330], Pathogenic 121,307,244(+) TGACG(A/G)TGATT reference, missense
rs104894297 Lathosterolosis (LATHST) [MIM:607330], Pathogenic 121,303,512(+) CCTTT(A/C)TTTCT reference, missense
rs1061332 -- 121,307,593(+) ATAAT(A/C)TCCAT utr-variant-3-prime
rs10712296 -- 121,304,570(+) TGCCC(-/T)TTTTT intron-variant

Variation tolerance for SC5D Gene

Residual Variation Intolerance Score: 37.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SC5D Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SC5D Gene

Disorders for SC5D Gene

MalaCards: The human disease database

(5) MalaCards diseases for SC5D Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • sc5d deficiency
antley-bixler syndrome without genital anomalies or disordered steroidogenesis
  • antley-bixler syndrome
mevalonic aciduria
  • mevalonate kinase deficiency
chondrodysplasia punctata syndrome
  • chondrodysplasia punctata
congenital ichthyosiform erythroderma
  • alligator skin
- elite association - COSMIC cancer census association via MalaCards
Search SC5D in MalaCards View complete list of genes associated with diseases


  • Lathosterolosis (LATHST) [MIM:607330]: Autosomal recessive disorder characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease. {ECO:0000269 PubMed:12189593, ECO:0000269 PubMed:12812989}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SC5D

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SC5D: view

No data available for Genatlas for SC5D Gene

Publications for SC5D Gene

  1. Molecular cloning and mapping of a human cDNA(SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase. (PMID: 8976377) Matsushima M. … Nakamura Y. (Cytogenet. Cell Genet. 1996) 2 3 4 22 64
  2. Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. (PMID: 12812989) Krakowiak P.A. … Porter F.D. (Hum. Mol. Genet. 2003) 3 4 22 64
  3. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5- desaturase. (PMID: 12189593) Brunetti-Pierri N. … Parenti G. (Am. J. Hum. Genet. 2002) 3 4 22 64
  4. Molecular cloning and structural analysis of human sterol C5 desaturase. (PMID: 11731337) Sugawara T. … Ishibashi T. (Biochim. Biophys. Acta 2001) 3 22 25 64
  5. cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant. (PMID: 10786622) Nishi S. … Ishibashi T. (Biochim. Biophys. Acta 2000) 3 4 22 64

Products for SC5D Gene

Sources for SC5D Gene

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