E9PM00 · E9PM00_HUMAN
- Protein7-dehydrocholesterol reductase
- GeneDHCR7
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids417 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Function
function
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. Can also metabolize cholesta-5,7,24-trien-3beta-ol (7-dehydrodemosterol, 7-DHD) to desmosterol, which is then metabolized by the Delta24-sterol reductase (DHCR24) to cholesterol. 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.
Catalytic activity
- 7-dehydrodesmosterol + H+ + NADPH = desmosterol + NADP+This reaction proceeds in the forward direction.
Pathway
Steroid biosynthesis; cholesterol biosynthesis.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | endoplasmic reticulum | |
Cellular Component | endoplasmic reticulum membrane | |
Molecular Function | oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | |
Biological Process | cholesterol biosynthetic process |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended name7-dehydrocholesterol reductase
- EC number
- Short names7-DHC
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionE9PM00
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Endoplasmic reticulum membrane ; Multi-pass membrane protein
Membrane ; Multi-pass membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 92-112 | Helical | ||||
Sequence: AWLLTHLLWFANAHLLSWFSP | ||||||
Transmembrane | 118-139 | Helical | ||||
Sequence: NWIPLLWCANILGYAVSTFAMV | ||||||
Transmembrane | 208-228 | Helical | ||||
Sequence: VTNAMVLVNVLQAIYVIDFFW | ||||||
Transmembrane | 276-293 | Helical | ||||
Sequence: TPHAVGVLLLGLVGYYIF | ||||||
Transmembrane | 357-382 | Helical | ||||
Sequence: SLAYCLACGGGHLLPYFYIIYMAILL |
Keywords
- Cellular component
Disease & Variants
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 558 variants from UniProt as well as other sources including ClinVar and dbSNP.
Genetic variation databases
PTM/Processing
Proteomic databases
Expression
Gene expression databases
Structure
Sequence
- Sequence statusComplete
- Length417
- Mass (Da)47,941
- Last updated2022-05-25 v2
- Checksum44940A71D7EFB229
Computationally mapped potential isoform sequences
There are 15 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
Q9UBM7 | DHCR7_HUMAN | DHCR7 | 475 | ||
H0YEJ5 | H0YEJ5_HUMAN | DHCR7 | 245 | ||
H0YE57 | H0YE57_HUMAN | DHCR7 | 221 | ||
H0YCS7 | H0YCS7_HUMAN | DHCR7 | 116 | ||
B4E1K5 | B4E1K5_HUMAN | DHCR7 | 280 | ||
A0A804HI25 | A0A804HI25_HUMAN | DHCR7 | 492 | ||
A0A804HJQ7 | A0A804HJQ7_HUMAN | DHCR7 | 487 | ||
A0A804HJI8 | A0A804HJI8_HUMAN | DHCR7 | 366 | ||
A0A804HL56 | A0A804HL56_HUMAN | DHCR7 | 414 | ||
E9PRL8 | E9PRL8_HUMAN | DHCR7 | 91 | ||
E9PQ71 | E9PQ71_HUMAN | DHCR7 | 105 | ||
E9PLZ2 | E9PLZ2_HUMAN | DHCR7 | 35 | ||
E9PIP9 | E9PIP9_HUMAN | DHCR7 | 107 | ||
E9PJ54 | E9PJ54_HUMAN | DHCR7 | 164 | ||
A0A8I5KRR9 | A0A8I5KRR9_HUMAN | DHCR7 | 443 |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AP002387 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. |