Gene/Proteome Database (LMPD)
LMPD ID
LMP002707
Gene ID
Species
Homo sapiens (Human)
Gene Name
7-dehydrocholesterol reductase
Gene Symbol
Synonyms
SLOS
Alternate Names
7-dehydrocholesterol reductase; 7-DHC reductase; sterol delta-7-reductase; putative sterol reductase SR-2; delta-7-dehydrocholesterol reductase
Chromosome
11
Map Location
11q13.4
EC Number
1.3.1.21
Summary
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]
Orthologs
Proteins
| 7-dehydrocholesterol reductase | |
|---|---|
| Refseq ID | NP_001351 |
| Protein GI | 119943112 |
| UniProt ID | Q9UBM7 |
| mRNA ID | NM_001360 |
| Length | 475 |
| RefSeq Status | REVIEWED |
| MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF | |
| 7-dehydrocholesterol reductase | |
|---|---|
| Refseq ID | NP_001157289 |
| Protein GI | 255308875 |
| UniProt ID | Q9UBM7 |
| mRNA ID | NM_001163817 |
| Length | 475 |
| RefSeq Status | REVIEWED |
| Protein sequence is identical to GI:119943112 (mRNA isoform) | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005783 | IDA:UniProtKB | C | endoplasmic reticulum |
| GO:0005789 | TAS:Reactome | C | endoplasmic reticulum membrane |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0016020 | IDA:UniProtKB | C | membrane |
| GO:0005640 | IDA:UniProtKB | C | nuclear outer membrane |
| GO:0047598 | IDA:UniProtKB | F | 7-dehydrocholesterol reductase activity |
| GO:0001568 | IEA:Ensembl | P | blood vessel development |
| GO:0030154 | IEA:Ensembl | P | cell differentiation |
| GO:0006695 | IMP:UniProtKB | P | cholesterol biosynthetic process |
| GO:0030324 | IEA:Ensembl | P | lung development |
| GO:0035264 | IEA:Ensembl | P | multicellular organism growth |
| GO:0009791 | IEA:Ensembl | P | post-embryonic development |
| GO:0042127 | IEA:Ensembl | P | regulation of cell proliferation |
| GO:0045540 | IEA:Ensembl | P | regulation of cholesterol biosynthetic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_147904 | Activation of gene expression by SREBF (SREBP) |
| REACT_9405 | Cholesterol biosynthesis |
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Catalytic Activity | Cholesterol + NADP(+) = cholesta-5,7-dien-3- beta-ol + NADPH. |
| Disease | Smith-Lemli-Opitz syndrome (SLOS) [MIM |
| Function | Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC). |
| Pathway | Steroid biosynthesis; cholesterol biosynthesis. |
| Similarity | Belongs to the ERG4/ERG24 family. |
| Subcellular Location | Endoplasmic reticulum membrane ; Multi-pass membrane protein . |
| Tissue Specificity | Most abundant in adrenal gland, liver, testis, and brain. |
Identical and Related Proteins
Unique RefSeq proteins for LMP002707 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 119943112 | RefSeq | NP_001351 | 475 | 7-dehydrocholesterol reductase |
Identical Sequences to LMP002707 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:119943112 | GenBank | ADT47358.1 | 475 | Sequence 1019 from patent US 7842466 |
| GI:119943112 | GenBank | ADT50864.1 | 475 | Sequence 2881 from patent US 7842467 |
| GI:119943112 | GenBank | ADT50865.1 | 475 | Sequence 2882 from patent US 7842467 |
| GI:119943112 | GenBank | ADT50866.1 | 475 | Sequence 2883 from patent US 7842467 |
| GI:119943112 | GenBank | ADT50867.1 | 475 | Sequence 2884 from patent US 7842467 |
| GI:119943112 | GenBank | AIC54278.1 | 475 | DHCR7, partial [synthetic construct] |
Related Sequences to LMP002707 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:119943112 | DBBJ | BAF82186.1 | 475 | unnamed protein product [Homo sapiens] |
| GI:119943112 | DBBJ | BAG35639.1 | 475 | unnamed protein product [Homo sapiens] |
| GI:119943112 | GenBank | AAC05086.1 | 475 | delta7-sterol reductase [Homo sapiens] |
| GI:119943112 | GenBank | ACM80569.1 | 475 | Sequence 6067 from patent US 6812339 |
| GI:119943112 | GenBank | AHD69446.1 | 475 | Sequence 460 from patent US 8586006 |
| GI:119943112 | GenBank | AHW56461.1 | 475 | 7-dehydrocholesterol reductase isoform A, partial [Homo sapiens] |