HSD3B1
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1
Also known as: 3BHS1_HUMAN, HSD3B, HSDB3, SDR11E1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P14060
- Gene
- HSD3B1
- Ensembl
- ENSG00000203857
- Chromosome
- 1
- Canonical length
- 373 aa
- Protein class
- Enzymes, FDA approved drug targets, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoli,Endoplasmic reticulum,Microtubules,Cytokinetic bridge,Primary cilium,Primary cilium transition zone
OverviewNCBI Gene
The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016]
Canonical amino-acid sequenceUniProt
373 residues, UniProt reviewed canonical sequence.
>P14060|HSD3B1
1 MTGWSCLVTG AGGFLGQRII RLLVKEKELK EIRVLDKAFG PELREEFSKL QNKTKLTVLE
61 GDILDEPFLK RACQDVSVII HTACIIDVFG VTHRESIMNV NVKGTQLLLE ACVQASVPVF
121 IYTSSIEVAG PNSYKEIIQN GHEEEPLENT WPAPYPHSKK LAEKAVLAAN GWNLKNGGTL
181 YTCALRPMYI YGEGSRFLSA SINEALNNNG ILSSVGKFST VNPVYVGNVA WAHILALRAL
241 QDPKKAPSIR GQFYYISDDT PHQSYDNLNY TLSKEFGLRL DSRWSFPLSL MYWIGFLLEI
301 VSFLLRPIYT YRPPFNRHIV TLSNSVFTFS YKKAQRDLAY KPLYSWEEAK QKTVEWVGSL
361 VDRHKETLKS KTQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HSD3B1 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)
- 0.23
- Highest tissue expression
- 73 nTPM
Expression across tissuesHPA
Tissue
- placenta: 73 nTPM
- small intestine: 8.3 nTPM
- skin: 4 nTPM
- breast: 1.4 nTPM
- adrenal gland: 1.1 nTPM
- liver: 1.1 nTPM
Single-cell type
- syncytiotrophoblasts: 782 nCPM
- extravillous trophoblasts: 267 nCPM
- migrating cytotrophoblasts: 142 nCPM
- enterocytes: 45 nCPM
- cytotrophoblasts: 9.6 nCPM
- epicardial cells: 6.8 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 6 nTPM
- white matter: 3.5 nTPM
- amygdala: 3.4 nTPM
- pons: 2.5 nTPM
- thalamus: 2.2 nTPM
- basal ganglia: 2.1 nTPM
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)
- 1.44
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.01
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- androgen biosynthetic process
- C21-steroid hormone metabolic process
- estrogen biosynthetic process
- progesterone biosynthetic process
- steroid biosynthetic process
Molecular functions
- 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity
- 3-beta-hydroxysteroid 3-dehydrogenase (NADP+) activity
- 5-alpha-androstane-3-beta,17-beta-diol dehydrogenase (NADP+) activity
- oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
- steroid Delta-isomerase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HSD3B1 as an antibody target. Whether an autoantibody or antibody against HSD3B1 could matter depends on whether native HSD3B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HSD3B1 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 HSD3B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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