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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 10-Dec-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
    mouse all
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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
    • 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)

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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