E9PM00 · E9PM00_HUMAN

  • Protein
    7-dehydrocholesterol reductase
  • Gene
    DHCR7
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    3/5

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.

Caution

Lacks conserved residue(s) required for the propagation of feature annotation.

Catalytic activity

Pathway

Steroid biosynthesis; cholesterol biosynthesis.

GO annotations

AspectTerm
Cellular Componentendoplasmic reticulum
Cellular Componentendoplasmic reticulum membrane
Molecular Functionoxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
Biological Processcholesterol biosynthetic process

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    7-dehydrocholesterol reductase
  • EC number
  • Short names
    7-DHC
  • Alternative names
    • Sterol Delta(7)-reductase

Gene names

    • Name
      DHCR7

Organism names

  • Taxonomic identifier
  • Organism
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    E9PM00

Proteomes

Organism-specific databases

Subcellular Location

Endoplasmic reticulum membrane
; Multi-pass membrane protein
Membrane
; Multi-pass membrane protein

Features

Showing features for transmembrane.

TypeIDPosition(s)Description
Transmembrane92-112Helical
Transmembrane118-139Helical
Transmembrane208-228Helical
Transmembrane276-293Helical
Transmembrane357-382Helical

Keywords

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.

Go to variant viewer

Genetic variation databases

PTM/Processing

Expression

Gene expression databases

Structure

Family & Domains

Sequence similarities

Belongs to the ERG4/ERG24 family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence

  • Sequence status
    Complete
  • Length
    417
  • Mass (Da)
    47,941
  • Last updated
    2022-05-25 v2
  • Checksum
    44940A71D7EFB229
MACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF

Computationally mapped potential isoform sequences

There are 15 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
Q9UBM7DHCR7_HUMANDHCR7475
H0YEJ5H0YEJ5_HUMANDHCR7245
H0YE57H0YE57_HUMANDHCR7221
H0YCS7H0YCS7_HUMANDHCR7116
B4E1K5B4E1K5_HUMANDHCR7280
A0A804HI25A0A804HI25_HUMANDHCR7492
A0A804HJQ7A0A804HJQ7_HUMANDHCR7487
A0A804HJI8A0A804HJI8_HUMANDHCR7366
A0A804HL56A0A804HL56_HUMANDHCR7414
E9PRL8E9PRL8_HUMANDHCR791
E9PQ71E9PQ71_HUMANDHCR7105
E9PLZ2E9PLZ2_HUMANDHCR735
E9PIP9E9PIP9_HUMANDHCR7107
E9PJ54E9PJ54_HUMANDHCR7164
A0A8I5KRR9A0A8I5KRR9_HUMANDHCR7443

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AP002387
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.

Genome annotation databases

Similar Proteins

Disclaimer

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