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HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 [ Homo sapiens (human) ]

Gene ID: 3283, updated on 2-Nov-2024

Summary

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Official Symbol
HSD3B1provided by HGNC
Official Full Name
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1provided by HGNC
Primary source
HGNC:HGNC:5217
See related
Ensembl:ENSG00000203857 MIM:109715; AllianceGenome:HGNC:5217
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSD3B; HSDB3; HSDB3A; SDR11E1; 3BETAHSD
Summary
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]
Expression
Restricted expression toward placenta (RPKM 60.6) See more
Orthologs
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Genomic context

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See HSD3B1 in Genome Data Viewer
Location:
1p12
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (119507203..119515058)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (119520389..119528244)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (120049826..120057681)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378935 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 58 Neighboring gene HSD3B1 5' regulatory region Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 32 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Expression and gene variation studies deny association of human HSD3B1 gene with aldosterone production or blood pressure. Verwoert GC, et al. Am J Hypertens, 2015 Jan. PMID 24951726
  2. Identification of key amino acids responsible for the substantially higher affinities of human type 1 3beta-hydroxysteroid dehydrogenase/isomerase (3beta-HSD1) for substrates, coenzymes, and inhibitors relative to human 3beta-HSD2. Thomas JL, et al. J Biol Chem, 2005 Jun 3. PMID 15797861, Free PMC Article
  3. Structure/function of human type 1 3beta-hydroxysteroid dehydrogenase: An intrasubunit disulfide bond in the Rossmann-fold domain and a Cys residue in the active site are critical for substrate and coenzyme utilization. Thomas JL, et al. J Steroid Biochem Mol Biol, 2007 Oct. PMID 17624763, Free PMC Article
  4. HSD3B1 as a novel trophoblast-associated marker that assists in the differential diagnosis of trophoblastic tumors and tumorlike lesions. Mao TL, et al. Am J Surg Pathol, 2008 Feb. PMID 18223326
  5. Structural basis for the selective inhibition of human 3beta-hydroxysteroid dehydrogenase 1 in human breast tumor MCF-7 cells. Thomas JL, et al. Mol Cell Endocrinol, 2009 Mar 25. PMID 18955108, Free PMC Article

See all (133) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Adrenal-Permissive HSD3B1 Genotype-An Invisible Stimulator of Prostate Cancer Mortality.
    Title: Adrenal-Permissive HSD3B1 Genotype-An Invisible Stimulator of Prostate Cancer Mortality.
  2. Adrenal-Permissive Germline HSD3B1 Allele and Prostate Cancer Outcomes.
    Title: Adrenal-Permissive Germline HSD3B1 Allele and Prostate Cancer Outcomes.
  3. Intratumoral androgen biosynthesis associated with 3beta-hydroxysteroid dehydrogenase 1 promotes resistance to radiotherapy in prostate cancer.
    Title: Intratumoral androgen biosynthesis associated with 3β-hydroxysteroid dehydrogenase 1 promotes resistance to radiotherapy in prostate cancer.
  4. High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
    Title: High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
  5. HSD3B1 is an oxysterol 3beta-hydroxysteroid dehydrogenase in human placenta.
    Title: HSD3B1 is an oxysterol 3β-hydroxysteroid dehydrogenase in human placenta.
  6. HSD3B1 Expression Is Upregulated by Interleukin 4 in HT-29 Colon Cancer Cells via Multiple Signaling Pathways.
    Title: HSD3B1 Expression Is Upregulated by Interleukin 4 in HT-29 Colon Cancer Cells via Multiple Signaling Pathways.
  7. Association of HSD3B1 Genotype and Clinical Outcomes in Postmenopausal Estrogen-Receptor-Positive Breast Cancer.
    Title: Association of HSD3B1 Genotype and Clinical Outcomes in Postmenopausal Estrogen-Receptor-Positive Breast Cancer.
  8. Association Between Adrenal-Restrictive HSD3B1 Inheritance and Hormone-Independent Subtypes of Endometrial and Breast Cancer.
    Title: Association Between Adrenal-Restrictive HSD3B1 Inheritance and Hormone-Independent Subtypes of Endometrial and Breast Cancer.
  9. Role of single nucleotide polymorphisms of the HSD3B1 gene (rs6203 and rs33937873) in the prediction of prostate cancer risk.
    Title: Role of single nucleotide polymorphisms of the HSD3B1 gene (rs6203 and rs33937873) in the prediction of prostate cancer risk.
  10. Inheritance of a common androgen synthesis variant allele is associated with female COVID susceptibility in UK Biobank.
    Title: Inheritance of a common androgen synthesis variant allele is associated with female COVID susceptibility in UK Biobank.
Submit: New GeneRIF Correction See all GeneRIFs (86)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables 3-keto sterol reductase activity IEA
Inferred from Electronic Annotation
more info
  
enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables steroid delta-isomerase activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Process Evidence Code Pubs
involved_in C21-steroid hormone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in androgen biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in estrogen biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in steroid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in steroid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in intercellular bridge IDA
Inferred from Direct Assay
more info
  
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in smooth endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1
Names
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I
3-beta-HSD I
3-beta-hydroxy-5-ene steroid dehydrogenase
3-beta-hydroxy-Delta(5)-steroid dehydrogenase
3-beta-hydroxysteroid 3-dehydrogenase
delta-5-3-ketosteroid isomerase
dihydrotestosterone oxidoreductase
progesterone reductase
short chain dehydrogenase/reductase family 11E, member 1
steroid Delta-isomerase
trophoblast antigen FDO161G
NP_000853.1
NP_001315544.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050909.1 RefSeqGene

    Range
    5099..12943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000862.3 → NP_000853.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

    See identical proteins and their annotated locations for NP_000853.1

    Status: REVIEWED

    Source sequence(s)
    AL544564, BC031999, X53321
    Consensus CDS
    CCDS903.1
    UniProtKB/Swiss-Prot
    A8K691, P14060, Q14545, Q8IV65
    UniProtKB/TrEMBL
    B2R8L0
    Related
    ENSP00000358421.3, ENST00000369413.8
    Conserved Domains (2) summary
    cd09811
    Location:5 → 357
    3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
    pfam01073
    Location:7 → 287
    3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

  2. NM_001328615.1 → NP_001315544.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

    Status: REVIEWED

    Source sequence(s)
    AL121995, AL550307, X53321
    Consensus CDS
    CCDS903.1
    UniProtKB/Swiss-Prot
    A8K691, P14060, Q14545, Q8IV65
    UniProtKB/TrEMBL
    B2R8L0
    Related
    ENSP00000432268.1, ENST00000528909.1
    Conserved Domains (2) summary
    cd09811
    Location:5 → 357
    3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
    pfam01073
    Location:7 → 287
    3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    119507203..119515058
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    119520389..119528244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P14060.2 GenPept UniProtKB/Swiss-Prot:P14060

Gene LinkOut

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