ID:DHCR7_HUMAN DESCRIPTION: RecName: Full=7-dehydrocholesterol reductase; Short=7-DHC reductase; EC=1.3.1.21; AltName: Full=Putative sterol reductase SR-2; AltName: Full=Sterol Delta(7)-reductase; FUNCTION: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC). CATALYTIC ACTIVITY: Cholesterol + NADP(+) = cholesta-5,7-dien-3- beta-ol + NADPH. PATHWAY: Steroid biosynthesis; cholesterol biosynthesis. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Most abundant in adrenal gland, liver, testis, and brain. DISEASE: Defects in DHCR7 are the cause of Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]; also known as SLO syndrome or RSH syndrome. SLOS is an autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and dysmorphias. All patients suffer from 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. SIMILARITY: Belongs to the ERG4/ERG24 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DHCR7";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01222 - Ergosterol biosynthesis ERG4/ERG24 family
ModBase Predicted Comparative 3D Structure on Q9UBM7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0009918 sterol delta7 reductase activity GO:0016491 oxidoreductase activity GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor GO:0047598 7-dehydrocholesterol reductase activity GO:0050661 NADP binding
Biological Process: GO:0001568 blood vessel development GO:0006629 lipid metabolic process GO:0006694 steroid biosynthetic process GO:0006695 cholesterol biosynthetic process GO:0008202 steroid metabolic process GO:0008203 cholesterol metabolic process GO:0009791 post-embryonic development GO:0016126 sterol biosynthetic process GO:0016132 brassinosteroid biosynthetic process GO:0030154 cell differentiation GO:0030324 lung development GO:0033489 cholesterol biosynthetic process via desmosterol GO:0033490 cholesterol biosynthetic process via lathosterol GO:0035264 multicellular organism growth GO:0042127 regulation of cell proliferation GO:0045540 regulation of cholesterol biosynthetic process GO:0055114 oxidation-reduction process
Cellular Component: GO:0005640 nuclear outer membrane GO:0005783 endoplasmic reticulum GO:0005789 endoplasmic reticulum membrane GO:0005829 cytosol GO:0016020 membrane GO:0016021 integral component of membrane GO:0030176 integral component of endoplasmic reticulum membrane GO:0043231 intracellular membrane-bounded organelle
Descriptions from all associated GenBank mRNAs
AK309625 - Homo sapiens cDNA, FLJ99666. LF384319 - JP 2014500723-A/191822: Polycomb-Associated Non-Coding RNAs. AF096305 - Homo sapiens sterol reductase SR-2 (DHCR7) mRNA, complete cds. AF067127 - Homo sapiens 7-dehydrocholesterol reductase (DHCR7) mRNA, complete cds. AF034544 - Homo sapiens delta7-sterol reductase mRNA, complete cds. BC000054 - Homo sapiens 7-dehydrocholesterol reductase, mRNA (cDNA clone MGC:1760 IMAGE:3507516), complete cds. JD261311 - Sequence 242335 from Patent EP1572962. JD433272 - Sequence 414296 from Patent EP1572962. JD340444 - Sequence 321468 from Patent EP1572962. JD178528 - Sequence 159552 from Patent EP1572962. LF370885 - JP 2014500723-A/178388: Polycomb-Associated Non-Coding RNAs. AK289497 - Homo sapiens cDNA FLJ77740 complete cds, highly similar to Homo sapiens 7-dehydrocholesterol reductase, mRNA. JD344354 - Sequence 325378 from Patent EP1572962. JD534303 - Sequence 515327 from Patent EP1572962. JD090179 - Sequence 71203 from Patent EP1572962. JD397694 - Sequence 378718 from Patent EP1572962. JD258680 - Sequence 239704 from Patent EP1572962. JD465098 - Sequence 446122 from Patent EP1572962. JD085737 - Sequence 66761 from Patent EP1572962. AF062481 - Homo sapiens 7-dehydrocholesterol reductase (DHCR7) mRNA, partial cds. JD473196 - Sequence 454220 from Patent EP1572962. JD340446 - Sequence 321470 from Patent EP1572962. JD495845 - Sequence 476869 from Patent EP1572962. AK303881 - Homo sapiens cDNA FLJ51181 complete cds, highly similar to 7-dehydrocholesterol reductase (EC 1.3.1.21). JD084837 - Sequence 65861 from Patent EP1572962. JD140662 - Sequence 121686 from Patent EP1572962. LF370884 - JP 2014500723-A/178387: Polycomb-Associated Non-Coding RNAs. JD442299 - Sequence 423323 from Patent EP1572962. JD253812 - Sequence 234836 from Patent EP1572962. JD544384 - Sequence 525408 from Patent EP1572962. JD485715 - Sequence 466739 from Patent EP1572962. JD337040 - Sequence 318064 from Patent EP1572962. AK312775 - Homo sapiens cDNA, FLJ93191, Homo sapiens 7-dehydrocholesterol reductase (DHCR7), mRNA. DQ891827 - Synthetic construct clone IMAGE:100004457; FLH180333.01X; RZPDo839B01134D 7-dehydrocholesterol reductase (DHCR7) gene, encodes complete protein. KJ896703 - Synthetic construct Homo sapiens clone ccsbBroadEn_06097 DHCR7 gene, encodes complete protein. DQ895014 - Synthetic construct Homo sapiens clone IMAGE:100009474; FLH180329.01L; RZPDo839B01133D 7-dehydrocholesterol reductase (DHCR7) gene, encodes complete protein. KJ534821 - Homo sapiens clone DHCR7_iso-A_adult-A01 7-dehydrocholesterol reductase isoform A (DHCR7) mRNA, partial cds, alternatively spliced. KJ534963 - Homo sapiens clone DHCR7_iso-C_fetal-F09 7-dehydrocholesterol reductase isoform C (DHCR7) mRNA, partial cds, alternatively spliced. KJ534997 - Homo sapiens clone DHCR7_iso-B_fetal-F12 7-dehydrocholesterol reductase isoform B (DHCR7) mRNA, complete cds, alternatively spliced. KU178026 - Homo sapiens 7-dehydrocholesterol reductase isoform 1 (DHCR7) mRNA, partial cds. KU178027 - Homo sapiens 7-dehydrocholesterol reductase isoform 2 (DHCR7) mRNA, complete cds, alternatively spliced. KU178028 - Homo sapiens 7-dehydrocholesterol reductase isoform 3 (DHCR7) mRNA, complete cds, alternatively spliced. KU178029 - Homo sapiens 7-dehydrocholesterol reductase isoform 4 (DHCR7) mRNA, partial cds, alternatively spliced. LF370883 - JP 2014500723-A/178386: Polycomb-Associated Non-Coding RNAs. JD473219 - Sequence 454243 from Patent EP1572962. JD223582 - Sequence 204606 from Patent EP1572962. JD206694 - Sequence 187718 from Patent EP1572962. LF370879 - JP 2014500723-A/178382: Polycomb-Associated Non-Coding RNAs. MA619896 - JP 2018138019-A/191822: Polycomb-Associated Non-Coding RNAs. MA606462 - JP 2018138019-A/178388: Polycomb-Associated Non-Coding RNAs. MA606461 - JP 2018138019-A/178387: Polycomb-Associated Non-Coding RNAs. MA606460 - JP 2018138019-A/178386: Polycomb-Associated Non-Coding RNAs. MA606456 - JP 2018138019-A/178382: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
BioCyc Knowledge Library PWY66-3 - cholesterol biosynthesis II (via 24,25-dihydrolanosterol) PWY66-341 - cholesterol biosynthesis I PWY66-4 - cholesterol biosynthesis III (via desmosterol) PWY66-5 - superpathway of cholesterol biosynthesis
Reactome (by CSHL, EBI, and GO)
Protein Q9UBM7 (Reactome details) participates in the following event(s):
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
