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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
7-dehydrocholesterol reductase
Summary
- UniProt ID
- Q9UBM7
- Gene Symbol
-
- DHCR7
- D7SR
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q9UBM7
- PubChem
- Q9UBM7
- SwissLipids
- The Human Metabolome Database
- HMDBP00548
- The O-GlcNAc Database
- Q9UBM7
- RaftProt
- Q9UBM7
Annotation
- Keyword
-
- Cholesterol biosynthesis
- Disease variant
- Endoplasmic reticulum
- NADP
- Oxidoreductase
- Phosphoprotein
- Reference proteome
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| nuclear outer membrane |
| membrane |
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| GO Term |
|---|
| NADP binding |
| 7-dehydrocholesterol reductase activity |
Sequence
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Activation of gene expression by SREBF (SREBP) | Homo sapiens |
| Bloch pathway | Homo sapiens |
| Kandutsch-Russell pathway | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070131 | autosomal dominant cutis laxa 3 | |
| DOID:0070132 | autosomal recessive cutis laxa type IIIA | |
| DOID:0050429 | Hailey-Hailey disease | |
| DOID:0050454 | periventricular nodular heterotopia | |
| DOID:0050571 | congenital disorder of glycosylation type II | |
| DOID:0050651 | atrioventricular septal defect | |
| DOID:0050778 | Meckel syndrome | |
| DOID:0060041 | autism spectrum disorder | |
| DOID:0060249 | scoliosis | |
| DOID:0060281 | photosensitive epilepsy |
