Seroatlas · Human Serome Atlas

DHCR7

7-dehydrocholesterol reductase

Also known as: DHCR7_HUMAN, SLOS

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UBM7
Gene
DHCR7
Ensembl
ENSG00000172893
Chromosome
11
Canonical length
475 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Endoplasmic reticulum

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

475 residues, UniProt reviewed canonical sequence.

>Q9UBM7|DHCR7
     1  MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA
    61  CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK
   121  FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL
   181  LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN
   241  GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD
   301  HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL
   361  FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL
   421  ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DHCR7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
7
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
113 nTPM

Expression across tissuesHPA

Tissue

  • liver: 113 nTPM
  • adrenal gland: 69 nTPM
  • skin: 55 nTPM
  • epididymis: 53 nTPM
  • spinal cord: 46 nTPM
  • ovary: 43 nTPM

Single-cell type

  • epididymal principal cells: 178 nCPM
  • respiratory ionocytes: 122 nCPM
  • alveolar cells type 2: 96 nCPM
  • hepatocytes: 86 nCPM
  • syncytiotrophoblasts: 86 nCPM
  • esophageal apical cells: 72 nCPM

Immune cell

  • naive CD8 T-cell: 13 nTPM
  • MAIT T-cell: 13 nTPM
  • naive CD4 T-cell: 11 nTPM
  • gdT-cell: 11 nTPM
  • memory CD8 T-cell: 9.7 nTPM
  • memory CD4 T-cell: 8.9 nTPM

Brain region

  • white matter: 96 nTPM
  • pons: 94 nTPM
  • medulla oblongata: 91 nTPM
  • cerebellum: 72 nTPM
  • midbrain: 67 nTPM
  • thalamus: 62 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DHCR7.

Disease | AllUniProt

Conditions DHCR7 is implicated in, by any mechanism.

Disease | GeneticClinVar

302 pathogenic / likely-pathogenic of 1,156 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.35
gnomAD pLI
0
gnomAD missense Z
-0.45
DepMap mean gene effect
-0.14
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DHCR7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DHCR7 as an antibody target. Whether an autoantibody or antibody against DHCR7 could matter depends on whether native DHCR7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DHCR7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DHCR7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DHCR7. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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