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Aliases for DHCR7 Gene

Aliases for DHCR7 Gene

  • 7-Dehydrocholesterol Reductase 2 3
  • Putative Sterol Reductase SR-2 3 4
  • 7-DHC Reductase 3 4
  • EC 1.3.1.21 4 63
  • SLOS 3 6
  • Delta-7-Dehydrocholesterol Reductase 3
  • Smith-Lemli-Opitz Syndrome 2
  • Sterol Delta(7)-Reductase 4
  • Sterol Delta-7-Reductase 3
  • EC 1.3.1 63
  • D7SR 4

External Ids for DHCR7 Gene

Previous Symbols for DHCR7 Gene

  • SLOS

Summaries for DHCR7 Gene

Entrez Gene Summary for DHCR7 Gene

  • This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]

GeneCards Summary for DHCR7 Gene

DHCR7 (7-Dehydrocholesterol Reductase) is a Protein Coding gene. Diseases associated with DHCR7 include smith-lemli-opitz syndrome and sost-related sclerosing bone dysplasia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include 7-dehydrocholesterol reductase activity. An important paralog of this gene is TM7SF2.

UniProtKB/Swiss-Prot for DHCR7 Gene

  • Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC)

Tocris Summary for DHCR7 Gene

  • Delta7-Dehydrocholesterol reductase (DHCR) is a membrane-bound enzyme that catalyzes the final step of cholesterol biosynthesis (the reduction of the C7-8 double bond in 7-dehydrocholesterol to form cholesterol), using NADPH as a cofactor. Cholesterol is a vital component in biological membranes and in myelin and is necessary for the synthesis of steroid hormones and bile acids. DHCR is ubiquitously expressed and its highest concentrations are found in the liver and brain. Autosomal recessive mutations in the DHCR7 gene have been linked to Smith-Lemli-Opitz syndrome, an inherited disease causing multiple congenital abnormalities linked to defects in cholesterol biosynthesis. The human gene encoding this enzyme is localized to 11q12-13.

Gene Wiki entry for DHCR7 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHCR7 Gene

Genomics for DHCR7 Gene

Genomic Location for DHCR7 Gene

Start:
71,428,193 bp from pter
End:
71,452,868 bp from pter
Size:
24,676 bases
Orientation:
Minus strand

Genomic View for DHCR7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DHCR7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHCR7 Gene

Regulatory Elements for DHCR7 Gene

Proteins for DHCR7 Gene

  • Protein details for DHCR7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBM7-DHCR7_HUMAN
    Recommended name:
    7-dehydrocholesterol reductase
    Protein Accession:
    Q9UBM7
    Secondary Accessions:
    • B2R6Z2
    • O60492
    • O60717

    Protein attributes for DHCR7 Gene

    Size:
    475 amino acids
    Molecular mass:
    54489 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DHCR7 Gene

Proteomics data for DHCR7 Gene at MOPED

Post-translational modifications for DHCR7 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys13 and Lys88

Domains for DHCR7 Gene

Suggested Antigen Peptide Sequences for DHCR7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBM7

UniProtKB/Swiss-Prot:

DHCR7_HUMAN
Family:
  • Belongs to the ERG4/ERG24 family.:
    • Q9UBM7
genes like me logo Genes that share domains with DHCR7: view

No data available for Gene Families for DHCR7 Gene

Function for DHCR7 Gene

Molecular function for DHCR7 Gene

GENATLAS Biochemistry: delta 7-dehydrocholesterol reductase,located in the endoplasmic reticulum and continuous outer nuclear membrane,ubiquitously expressed,most abundant in adrenals,liver,testis,brain,LBR superfamily,catalyzing the ultimate step of cholesterol biosynthesis,deficient in SLOS
UniProtKB/Swiss-Prot CatalyticActivity: Cholesterol + NADP(+) = cholesta-5,7-dien-3-beta-ol + NADPH
UniProtKB/Swiss-Prot Function: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC)

Enzyme Numbers (IUBMB) for DHCR7 Gene

Gene Ontology (GO) - Molecular Function for DHCR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor --
GO:0047598 7-dehydrocholesterol reductase activity IDA 9465114
genes like me logo Genes that share ontologies with DHCR7: view
genes like me logo Genes that share phenotypes with DHCR7: view

Animal Models for DHCR7 Gene

MGI Knock Outs for DHCR7:

miRNA for DHCR7 Gene

No data available for Transcription Factor Targeting and HOMER Transcription for DHCR7 Gene

Localization for DHCR7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHCR7 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DHCR7 Gene COMPARTMENTS Subcellular localization image for DHCR7 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for DHCR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005640 nuclear outer membrane IDA 9878250
GO:0005783 endoplasmic reticulum IDA 9878250
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DHCR7: view

Pathways for DHCR7 Gene

genes like me logo Genes that share pathways with DHCR7: view

UniProtKB/Swiss-Prot Q9UBM7-DHCR7_HUMAN

  • Pathway: Steroid biosynthesis; cholesterol biosynthesis

Gene Ontology (GO) - Biological Process for DHCR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0009791 post-embryonic development IEA --
GO:0016126 sterol biosynthetic process --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with DHCR7: view

Compounds for DHCR7 Gene

(1) Tocris Compounds for DHCR7 Gene

Compound Action Cas Number
AY 9944 dihydrochloride Inhibitor of Hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase [366-93-8]

(10) HMDB Compounds for DHCR7 Gene

Compound Synonyms Cas Number PubMed IDs
24-Methylenecholesterol
  • (3b)-Ergosta-5,24(28)-dien-3-ol
474-63-5
5-Dehydroavenasterol
Not Available
5-Dehydroepisterol
  • Ergosta-5,7,24(28)-trien-3beta-ol
23582-83-4
7-Dehydrocholesterol
  • (-)-7-dehydrocholesterol
434-16-2
Avenasterol
  • Isofucosterol
481-14-1

(1) Drugbank Compounds for DHCR7 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(12) Novoseek inferred chemical compound relationships for DHCR7 Gene

Compound -log(P) Hits PubMed IDs
7-dehydrocholesterol 98.3 94
8-dehydrocholesterol 93.4 4
3beta-hydroxysterol 92.3 6
ay9944 84.6 5
sterol 80.2 15
genes like me logo Genes that share compounds with DHCR7: view

Transcripts for DHCR7 Gene

Unigene Clusters for DHCR7 Gene

7-dehydrocholesterol reductase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DHCR7 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - -
SP6: - - -
SP7: - -
SP8: - - - -
SP9: - -
SP10: - -
SP11:

Relevant External Links for DHCR7 Gene

GeneLoc Exon Structure for
DHCR7
ECgene alternative splicing isoforms for
DHCR7

Expression for DHCR7 Gene

mRNA expression in normal human tissues for DHCR7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DHCR7 Gene

This gene is overexpressed in Liver (5.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DHCR7 Gene

SOURCE GeneReport for Unigene cluster for DHCR7 Gene Hs.503134

mRNA Expression by UniProt/SwissProt for DHCR7 Gene

Q9UBM7-DHCR7_HUMAN
Tissue specificity: Most abundant in adrenal gland, liver, testis, and brain.
genes like me logo Genes that share expressions with DHCR7: view

Orthologs for DHCR7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHCR7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DHCR7 35
  • 99.16 (n)
  • 99.58 (a)
DHCR7 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DHCR7 35
  • 87.16 (n)
  • 88.84 (a)
DHCR7 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DHCR7 35
  • 88.14 (n)
  • 89.26 (a)
DHCR7 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dhcr7 35
  • 84.85 (n)
  • 88.75 (a)
Dhcr7 16
Dhcr7 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DHCR7 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DHCR7 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhcr7 35
  • 84.43 (n)
  • 87.47 (a)
chicken
(Gallus gallus)
Aves DHCR7 35
  • 71.66 (n)
  • 76.58 (a)
DHCR7 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DHCR7 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhcr7 35
  • 75.9 (n)
  • 75.69 (a)
MGC75866 35
zebrafish
(Danio rerio)
Actinopterygii dhcr7 35
  • 73.69 (n)
  • 74.62 (a)
dhcr7 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta LBR 36
  • 12 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dhcr-7 36
  • 20 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG24 36
  • 28 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons DWF5 35
  • 48.81 (n)
  • 39.79 (a)
rice
(Oryza sativa)
Liliopsida Os02g0465400 35
  • 49.32 (n)
  • 40.64 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14045 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for DHCR7:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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)

Evolution for DHCR7 Gene

ENSEMBL:
Gene Tree for DHCR7 (if available)
TreeFam:
Gene Tree for DHCR7 (if available)

Paralogs for DHCR7 Gene

Paralogs for DHCR7 Gene

Selected SIMAP similar genes for DHCR7 Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with DHCR7: view

Variants for DHCR7 Gene

Sequence variations from dbSNP and Humsavar for DHCR7 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs7690 -- 71,434,641(-) GCCCT(A/C/G/T)TGACT utr-variant-3-prime
rs12407 -- 71,434,585(+) GTGTG(A/G)GAGGC utr-variant-3-prime
rs12800 -- 71,438,975(-) GGGAT(C/T)GTCGC reference, synonymous-codon
rs736894 Benign 71,441,212(-) TAGCA(A/G)CGGGT intron-variant
rs760238 -- 71,441,066(-) ATCCT(C/T)CCTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DHCR7 Gene

Variant ID Type Subtype PubMed ID
nsv897896 CNV Gain 21882294
nsv897897 CNV Loss 21882294
dgv74n21 CNV Loss 19592680
nsv897898 CNV Loss 21882294
nsv518163 CNV Loss 19592680

Relevant External Links for DHCR7 Gene

HapMap Linkage Disequilibrium report
DHCR7
Human Gene Mutation Database (HGMD)
DHCR7
Locus Specific Mutation Databases (LSDB)
DHCR7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHCR7 Gene

Disorders for DHCR7 Gene

(1) OMIM Diseases for DHCR7 Gene (602858)

UniProtKB/Swiss-Prot

DHCR7_HUMAN
  • Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]: An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic (type I) SLOS and the more severely affected (type II) patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS. {ECO:0000269 PubMed:10677299, ECO:0000269 PubMed:10995508, ECO:0000269 PubMed:11175299, ECO:0000269 PubMed:11427181, ECO:0000269 PubMed:12949967, ECO:0000269 PubMed:15954111, ECO:0000269 PubMed:9653161, ECO:0000269 PubMed:9683613}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(9) Novoseek inferred disease relationships for DHCR7 Gene

Disease -log(P) Hits PubMed IDs
smith-lemli-opitz syndrome 98.9 88
anomaly congenital multiple 88.5 12
mental retardation 77.1 11
holoprosencephaly 74.8 3
growth failure 50.7 3

Relevant External Links for DHCR7

GeneTests
DHCR7
GeneReviews
DHCR7
Genetic Association Database (GAD)
DHCR7
Human Genome Epidemiology (HuGE) Navigator
DHCR7
genes like me logo Genes that share disorders with DHCR7: view

Publications for DHCR7 Gene

  1. Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. (PMID: 9634533) Wassif C.A. … Porter F.D. (Am. J. Hum. Genet. 1998) 2 3 4 23
  2. Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. (PMID: 9653161) Fitzky B.U. … Moebius F.F. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 23
  3. Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. (PMID: 9683613) Waterham H.R. … Wanders R.J.A. (Am. J. Hum. Genet. 1998) 3 4 23
  4. The human lamin B receptor/sterol reductase multigene family. (PMID: 9878250) Holmer L. … Worman H.J. (Genomics 1998) 3 4 23
  5. Mutational spectrum in the Delta7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. (PMID: 10677299) Witsch-Baumgartner M. … Utermann G. (Am. J. Hum. Genet. 2000) 3 4 23

Products for DHCR7 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Lipoprotein Signaling & Cholesterol Metabolism in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate DHCR7
    • 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
    • Predesigned siRNA for gene silencing in human,mouse,rat for DHCR7
    • Block miRNA regulation of DHCR7 using miScript Target Protectors

    Sources for DHCR7 Gene

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