Seroatlas · Human Serome Atlas

HSD17B3

17-beta-hydroxysteroid dehydrogenase type 3

Also known as: DHB3_HUMAN, SDR12C2

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

Protein identityUniProt · HPA

UniProt accession
P37058
Gene
HSD17B3
Ensembl
ENSG00000130948
Chromosome
9
Canonical length
310 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Vesicles

OverviewNCBI Gene

This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

310 residues, UniProt reviewed canonical sequence.

>P37058|HSD17B3
     1  MGDVLEQFFI LTGLLVCLAC LAKCVRFSRC VLLNYWKVLP KSFLRSMGQW AVITGAGDGI
    61  GKAYSFELAK RGLNVVLISR TLEKLEAIAT EIERTTGRSV KIIQADFTKD DIYEHIKEKL
   121  AGLEIGILVN NVGMLPNLLP SHFLNAPDEI QSLIHCNITS VVKMTQLILK HMESRQKGLI
   181  LNISSGIALF PWPLYSMYSA SKAFVCAFSK ALQEEYKAKE VIIQVLTPYA VSTAMTKYLN
   241  TNVITKTADE FVKESLNYVT IGGETCGCLA HEILAGFLSL IPAWAFYSGA FQRLLLTHYV
   301  AYLKLNTKVR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HSD17B3 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
34 nTPM

Expression across tissuesHPA

Tissue

  • testis: 34 nTPM
  • liver: 11 nTPM
  • thyroid gland: 5.9 nTPM
  • spinal cord: 5.5 nTPM
  • midbrain: 4.6 nTPM
  • hippocampal formation: 3.8 nTPM

Single-cell type

  • oligodendrocytes: 79 nCPM
  • bergmann glia: 15 nCPM
  • ependymal cells: 14 nCPM
  • astrocytes: 13 nCPM
  • tuft cells: 12 nCPM
  • microglia: 7.7 nCPM

Immune cell

  • total PBMC: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • white matter: 6.4 nTPM
  • medulla oblongata: 4.4 nTPM
  • basal ganglia: 4.1 nTPM
  • pons: 3.9 nTPM
  • thalamus: 3.8 nTPM
  • cerebral cortex: 3.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HSD17B3.

Disease | AllUniProt

Conditions HSD17B3 is implicated in, by any mechanism.

  • Male pseudohermaphrodism with gynecomastia (MPH) MIM:264300

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 347 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)
1.09
gnomAD pLI
0
gnomAD missense Z
0.37
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 HSD17B3 as an antibody target. Whether an autoantibody or antibody against HSD17B3 could matter depends on whether native HSD17B3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HSD17B3 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 HSD17B3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HSD17B3. 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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