Seroatlas · Human Serome Atlas

HSD11B1

11-beta-hydroxysteroid dehydrogenase 1

Also known as: DHI1_HUMAN, HSD11, HSD11B, SDR26C1

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

Protein identityUniProt · HPA

UniProt accession
P28845
Gene
HSD11B1
Ensembl
ENSG00000117594
Chromosome
1
Canonical length
292 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011]

Canonical amino-acid sequenceUniProt

292 residues, UniProt reviewed canonical sequence.

>P28845|HSD11B1
     1  MAFMKKYLLP ILGLFMAYYY YSANEEFRPE MLQGKKVIVT GASKGIGREM AYHLAKMGAH
    61  VVVTARSKET LQKVVSHCLE LGAASAHYIA GTMEDMTFAE QFVAQAGKLM GGLDMLILNH
   121  ITNTSLNLFH DDIHHVRKSM EVNFLSYVVL TVAALPMLKQ SNGSIVVVSS LAGKVAYPMV
   181  AAYSASKFAL DGFFSSIRKE YSVSRVNVSI TLCVLGLIDT ETAMKAVSGI VHMQAAPKEE
   241  CALEIIKGGA LRQEEVYYDS SLWTTLLIRN PCRKILEFLY STSYNMDRFI NK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HSD11B1 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
1
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
905 nTPM

Expression across tissuesHPA

Tissue

  • liver: 905 nTPM
  • placenta: 68 nTPM
  • ovary: 56 nTPM
  • lung: 39 nTPM
  • skin: 33 nTPM
  • prostate: 28 nTPM

Single-cell type

  • hepatocytes: 893 nCPM
  • endometrial luminal cells: 325 nCPM
  • epididymal basal cells: 123 nCPM
  • endometrial secretory cells: 95 nCPM
  • fibroblasts: 68 nCPM
  • endometrial glandular cells: 59 nCPM

Immune cell

  • memory CD4 T-cell: 5.7 nTPM
  • T-reg: 1.7 nTPM
  • memory CD8 T-cell: 1.2 nTPM
  • MAIT T-cell: 0.4 nTPM
  • total PBMC: 0.4 nTPM
  • NK-cell: 0.3 nTPM

Brain region

  • cerebellum: 35 nTPM
  • midbrain: 31 nTPM
  • white matter: 23 nTPM
  • pons: 21 nTPM
  • cerebral cortex: 20 nTPM
  • hypothalamus: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HSD11B1.

Disease | AllUniProt

Conditions HSD11B1 is implicated in, by any mechanism.

  • Cortisone reductase deficiency 2 (CORTRD2) MIM:614662

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 33 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Cortisone reductase deficiency 2

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)
0.66
gnomAD pLI
0.42
gnomAD missense Z
0.96
DepMap mean gene effect
-0.1
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HSD11B1 as an antibody target. Whether an autoantibody or antibody against HSD11B1 could matter depends on whether native HSD11B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HSD11B1 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 HSD11B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HSD11B1. 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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