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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 12-Oct-2019

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:HGNC:5217
See related
Ensembl:ENSG00000203857 MIM:109715
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

Genomic context

See HSD3B1 in Genome Data Viewer
Location:
1p12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (119507203..119515058)
105 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-beta-hydroxy-delta5-steroid dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3-beta-hydroxy-delta5-steroid dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
3-keto sterol reductase activity IEA
Inferred from Electronic Annotation
more info
 
5alpha-androstane-3beta,17beta-diol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
cholesterol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid delta-isomerase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
C21-steroid hormone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
androgen biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
estrogen biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
glucocorticoid biosynthetic process TAS
Traceable Author Statement
more info
 
hippocampus development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mineralocorticoid biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
response to corticosterone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
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 
nucleolus IDA
Inferred from Direct Assay
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 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)

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_000862.3NP_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
    P14060
    Related
    ENSP00000358421.3, ENST00000369413.8
    Conserved Domains (2) summary
    cd09811
    Location:5357
    3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
    pfam01073
    Location:7287
    3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family
  2. NM_001328615.1NP_001315544.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AL121995, AL550307, X53321
    Consensus CDS
    CCDS903.1
    UniProtKB/Swiss-Prot
    P14060
    Related
    ENSP00000432268.1, ENST00000528909.1
    Conserved Domains (2) summary
    cd09811
    Location:5357
    3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
    pfam01073
    Location:7287
    3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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