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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
11
Cytoband
q13.4
Chromosome location (bp)
71428193 - 71452868
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7-DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core 1,2,3,4,5. Can also metabolize cholesta-5,7,24-trien-3beta-ol (7-dehydrodemosterol, 7-DHD) to desmosterol, which is then metabolized by the Delta(24)-sterol reductase (DHCR24) to cholesterol (By similarity). Modulates ferroptosis (a form of regulated cell death driven by iron-dependent lipid peroxidation) through the metabolic breakdown of the anti-ferroptotic metabolites 7-DHC and 7-DHD which, when accumulated, divert the propagation of peroxyl radical-mediated damage from phospholipid components to its sterol core, protecting plasma and mitochondrial membranes from phospholipid autoxidation 6,7....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
NADP
Gene summary (Entrez)i
Useful information about the gene from Entrez
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 cognitive disability, 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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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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:0016020[membrane] GO:0016126[sterol biosynthetic process] GO:0016491[oxidoreductase activity] GO:0016628[oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor]
Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 9TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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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:0016020[membrane] GO:0016126[sterol biosynthetic process] GO:0016491[oxidoreductase activity] GO:0016628[oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor]
Metabolic proteins DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0005783[endoplasmic reticulum] GO:0016020[membrane] GO:0016126[sterol biosynthetic process] GO:0016628[oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor]
Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0016020[membrane] GO:0016126[sterol biosynthetic process] GO:0016628[oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor]
Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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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:0016020[membrane] GO:0016126[sterol biosynthetic process] GO:0016491[oxidoreductase activity] GO:0016628[oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor]
Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 8TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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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:0016020[membrane] GO:0016126[sterol biosynthetic process] GO:0016491[oxidoreductase activity] GO:0016628[oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor]
Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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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:0016020[membrane] GO:0016126[sterol biosynthetic process] GO:0016491[oxidoreductase activity] GO:0016628[oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor]
Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 8TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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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:0016020[membrane] GO:0016126[sterol biosynthetic process] GO:0016491[oxidoreductase activity] GO:0016628[oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor]
B4E1K5 [Direct mapping] 7-dehydrocholesterol reductase; cDNA FLJ51181, highly similar to 7-dehydrocholesterol reductase
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Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 5TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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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:0016020[membrane] GO:0016126[sterol biosynthetic process] GO:0016491[oxidoreductase activity] GO:0016628[oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor]
Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 9TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
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:0016020[membrane] GO:0016126[sterol biosynthetic process] GO:0016491[oxidoreductase activity] GO:0016628[oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor]
The Human Protein Atlas project is funded
