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

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Summary

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:5217
Locus tag: RP5-920G3.4
See related: Ensembl:ENSG00000203857; HPRD:04920; MIM:109715; Vega:OTTHUMG00000012525
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: I; HSD3B; HSDB3; HSDB3A; SDR11E1; 3BETAHSD

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Genomic context

Location :: 1p13.1

Sequence :: Chromosome: 1; NC_000001.10 (120049826..120057681)

See HSD3B1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

There is expression of 3beta-Hsd1 in XX gonads during gonad differentiation period.
Title: Expression of 3β-HSD1 and P450 Aromatase enzymes during mouse gonad differentiation.
rs6203 and rs1047303 in the HSD3B1 gene are useful genetic markers for essential hypertension, while polymorphisms of HSD3B1 are associated with the BP and aldosterone level.
Title: Association of HSD3B1 and HSD3B2 gene polymorphisms with essential hypertension, aldosterone level, and left ventricular structure.
Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
The study identifies an amino acid in the steroid binding domain of human 3-beta-HSD I that may be exploited to produce new inhibitors that are much more highly specific for 3-beta-HSD I in breast tumors compared to adrenal 3-beta-HSD II.
Title: The functions of key residues in the inhibitor, substrate and cofactor sites of human 3beta-hydroxysteroid dehydrogenase type 1 are validated by mutagenesis.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
We investigated associations between single nucleotide polymorphisms in genes HSD3B1, SRD5A1/2, and AKR1C2 and prostate cancer risk
Title: Genetic variation of genes involved in dihydrotestosterone metabolism and the risk of prostate cancer.
Data indicate that enzymes CYP17A1 and HSD3B1 showed low expression, while AKR1C3 and SRD5A1 were abundantly expressed.
Title: Evidence of limited contributions for intratumoral steroidogenesis in prostate cancer.
3beta-HSD protein was immunodetectable in primary ascites of women who were diagnosed with epithelial ovarian cancer but mRNA transcripts of both 3beta-hydroxysteroid dehydrogenase type 1 and type 2 were diminished relative to normal cells.
Title: Regulation of 3beta-hydroxysteroid dehydrogenase type 1 and type 2 gene expression and function in the human ovarian surface epithelium by cytokines.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer.

Submit: New GeneRIF Correction See all (37)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Function	Evidence Code	Pubs
3-beta-hydroxy-delta5-steroid dehydrogenase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
isomerase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
oxidoreductase activity	IEA Inferred from Electronic Annotation more info
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA Inferred from Electronic Annotation more info
steroid delta-isomerase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
androgen biosynthetic process	TAS Traceable Author Statement more info
estrogen biosynthetic process	TAS Traceable Author Statement more info	PubMed
glucocorticoid biosynthetic process	TAS Traceable Author Statement more info
mineralocorticoid biosynthetic process	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info
steroid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
steroid metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
microsome	IDA Inferred from Direct Assay more info	PubMed
mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
mitochondrion	IEA Inferred from Electronic Annotation more info
smooth endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Preferred Names: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

Names: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1; 3-beta-HSD I; progesterone reductase; steroid Delta-isomerase; trophoblast antigen FDO161G; delta-5-3-ketosteroid isomerase; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; short chain dehydrogenase/reductase family 11E, member 1; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I; hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 1

NP_000853.1

EC 1.1.1.145

EC 5.3.3.1

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_000862.2 → NP_000853.1 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

Status: VALIDATED

Source sequence(s)

AL544564, BC031999, X53321

Consensus CDS

CCDS903.1

UniProtKB/Swiss-Prot

P14060

Related

ENSP00000358421, OTTHUMP00000014488, ENST00000369413, OTTHUMT00000034993

Conserved Domains (2) summary

pfam01073
Location:7 – 288
Blast Score: 1180

3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

cd09811
Location:5 – 357
Blast Score: 1570

3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

120049826..120057681

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

117908314..117916173

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL121995.12	CAI23359.1
genomic	CH471122.1	EAW56703.1
		EAW56704.1
genomic	HC007030.1	CBH19320.1
genomic	M28392.1	AAA36001.1
genomic	M38180.1	AAA51831.1
genomic	M63397.1	AAA51662.1
mRNA	AK291556.1	BAF84245.1
mRNA	AL544564.3	None
mRNA	BC031999.1	AAH31999.1
mRNA	M27137.1	AAA36015.1
mRNA	M35493.1	AAA51538.1
mRNA	S45679.1	AAB23543.1
mRNA	X53321.1	CAA37408.1
mRNA	X55997.1	CAA39469.1
other-genetic	DQ891161.2	ABM82087.1
other-genetic	DQ894342.2	ABM85268.1