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Aliases for SC5D Gene

Aliases for SC5D Gene

  • Sterol-C5-Desaturase 2 3 4
  • SC5DL 3 4 6
  • Sterol-C5-Desaturase (ERG3 Delta-5-Desaturase Homolog, S. Cerevisiae)-Like 2 3
  • Delta(7)-Sterol 5-Desaturase 3 4
  • Lathosterol 5-Desaturase 3 4
  • C-5 Sterol Desaturase 3 4
  • Lathosterol Oxidase 2 3
  • ERG3 3 6
  • 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 1.14.21.6 4
  • S5DES 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. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include iron ion binding and lathosterol oxidase 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SC5D Gene

Start:
121,292,453 bp from pter
End:
121,313,410 bp from pter
Size:
20,958 bases
Orientation:
Plus strand

Genomic View for SC5D Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SC5D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SC5D Gene

No data available for Regulatory Elements for SC5D Gene

Proteins for SC5D Gene

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

    Protein Symbol:
    O75845-SC5D_HUMAN
    Recommended name:
    Lathosterol oxidase
    Protein Accession:
    O75845
    Secondary Accessions:
    • O00119
    • Q6GTM5
    • Q9UK15

    Protein attributes for SC5D Gene

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

neXtProt entry for SC5D Gene

Proteomics data for SC5D Gene at MOPED

Post-translational modifications for SC5D Gene

  • Ubiquitination at Lys255, Lys263, and Lys297
  • Modification sites at PhosphoSitePlus

Other Protein References for SC5D Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SC5D Gene

Domains for SC5D Gene

Gene Families for SC5D Gene

HGNC:
  • FATHD :Fatty acid hydroxylase domain containing

Protein Domains for SC5D Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75845

UniProtKB/Swiss-Prot:

SC5D_HUMAN :
  • O75845
Domain:
  • The histidine box domains may contain the active site and/or be involved in metal ion binding
Family:
  • Belongs to the sterol desaturase family.
genes like me logo Genes that share domains with SC5D: view

No data available for Suggested Antigen Peptide Sequences for SC5D Gene

Function for SC5D Gene

Molecular function for SC5D Gene

UniProtKB/Swiss-Prot CatalyticActivity:
5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O(2) = cholesta-5,7-dien-3-beta-ol + NAD(P)(+) + 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 IEA --
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity --
GO:0050046 lathosterol oxidase activity IEA --
genes like me logo Genes that share ontologies with SC5D: view
genes like me logo Genes that share phenotypes with SC5D: view

Animal Models for SC5D Gene

MGI Knock Outs for SC5D:

Animal Model Products

miRNA for SC5D Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SC5D

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle --
genes like me logo Genes that share ontologies with SC5D: view

No data available for Subcellular locations from COMPARTMENTS for SC5D Gene

Pathways 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 TAS 8976377
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0033490 cholesterol biosynthetic process via lathosterol IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with SC5D: view

Compounds for SC5D Gene

(6) Novoseek inferred chemical compound relationships for SC5D Gene

Compound -log(P) Hits PubMed IDs
lathosterol 92.4 14
7-dehydrocholesterol 85.5 2
sterol 73.3 1
squalene 63.7 1
anti-fungal 49.7 1
genes like me logo Genes that share compounds with SC5D: view

Transcripts for SC5D Gene

Unigene Clusters for SC5D Gene

Sterol-C5-desaturase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SC5D

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b
SP1: -
SP2: - -
SP3:

Relevant External Links for SC5D Gene

GeneLoc Exon Structure for
SC5D
ECgene alternative splicing isoforms for
SC5D

Expression for SC5D Gene

mRNA expression in normal human tissues for SC5D Gene

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

This gene is overexpressed in Liver (5.5).

Protein differential expression in normal tissues for SC5D Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SC5D Gene

SOURCE GeneReport for Unigene cluster for SC5D Gene Hs.287749

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

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Expression partners 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
dog
(Canis familiaris)
Mammalia SC5D 35
  • 88.07 (n)
  • 87.29 (a)
SC5D 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sc5d 35
  • 80.82 (n)
  • 83.61 (a)
Sc5d 16
Sc5d 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SC5DL 35
  • 99.22 (n)
  • 98.33 (a)
SC5D 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sc5d 35
  • 79.93 (n)
  • 82.27 (a)
cow
(Bos Taurus)
Mammalia SC5DL 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SC5D 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SC5D 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SC5DL 35
  • 64.47 (n)
  • 67.71 (a)
SC5D 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SC5D 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490845 35
  • 68.05 (n)
  • 67.59 (a)
zebrafish
(Danio rerio)
Actinopterygii sc5d 35
  • 66.22 (n)
  • 67.89 (a)
sc5d 36
  • 67 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR151C 35
  • 50.83 (n)
  • 50.83 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08855g 35
  • 54.1 (n)
  • 49.18 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG3 35
  • 52.54 (n)
  • 47.21 (a)
ERG3 36
  • 37 (a)
OneToOne
ERG3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G02590 35
  • 53.22 (n)
  • 38.12 (a)
rice
(Oryza sativa)
Liliopsida Os01g0134500 35
  • 46.25 (n)
  • 29.17 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06207 35
  • 53.85 (n)
  • 50.92 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg31 35
  • 55.6 (n)
  • 54.15 (a)
Species with no ortholog for SC5D:
  • 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

ENSEMBL:
Gene Tree for SC5D (if available)
TreeFam:
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 MAF
rs727422 -- 121,297,469(-) AGAGC(C/T)GAACT intron-variant
rs751417 -- 121,293,731(-) ATTTA(C/T)TAGGT intron-variant
rs751418 -- 121,293,873(-) CCTTT(C/T)TCTTT intron-variant
rs751419 -- 121,293,871(-) TTTCT(C/T)TTTGC intron-variant
rs891435 -- 121,293,193(-) GCGAT(C/G)CCTCC intron-variant

Relevant External Links for SC5D Gene

HapMap Linkage Disequilibrium report
SC5D
Human Gene Mutation Database (HGMD)
SC5D

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

MalaCards: The human disease database.

Search for SC5D Gene in MalaCards »

(1) Diseases for SC5D Gene including...

(1) OMIM Diseases for SC5D Gene (602286)

UniProtKB/Swiss-Prot

SC5D_HUMAN
  • 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.

(1) Novoseek inferred disease relationships for SC5D Gene

Disease -log(P) Hits PubMed IDs
lathosterolosis 95.5 1
genes like me logo Genes that share disorders with SC5D: view

No data available for University of Copenhagen DISEASES , Genatlas and External Links 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 23
  2. 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 23
  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 23
  4. 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 23
  5. Molecular cloning and structural analysis of human sterol C5 desaturase. (PMID: 11731337) Sugawara T. … Ishibashi T. (Biochim. Biophys. Acta 2001) 3 23

Products for SC5D Gene

Sources for SC5D Gene

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