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Hsd3b4 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 4 [ Mus musculus (house mouse) ]

Gene ID: 15495, updated on 5-Jan-2022

Summary

Official Symbol
Hsd3b4provided by MGI
Official Full Name
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 4provided by MGI
Primary source
MGI:MGI:96236
See related
Ensembl:ENSMUSG00000095143
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Predicted to enable 3-beta-hydroxy-delta5-steroid dehydrogenase activity; steroid binding activity; and steroid delta-isomerase activity. Acts upstream of or within response to stilbenoid. Located in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; eye; heart; nervous system; and urinary system. Human ortholog(s) of this gene implicated in hypertension and hypospadias. Orthologous to human HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1) and HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2). [provided by Alliance of Genome Resources, Nov 2021]
Expression
Restricted expression toward kidney adult (RPKM 169.7) See more
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Genomic context

See Hsd3b4 in Genome Data Viewer
Location:
3 F2.2; 3 42.79 cM
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (98406387..98417895, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (98499071..98510579, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (98303003..98314490, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene zinc finger protein 697 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 9 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5 pseudogene Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5 pseudogene Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 8

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Pathways from PubChem

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 3-beta-hydroxy-delta5-steroid dehydrogenase activity ISO
Inferred from Sequence Orthology
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
PubMed 
enables steroid binding ISO
Inferred from Sequence Orthology
more info
 
enables steroid delta-isomerase activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in C21-steroid hormone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in hippocampus development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in progesterone metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of steroid biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in response to corticosterone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within response to stilbenoid IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in steroid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in steroid biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in intercellular bridge ISO
Inferred from Sequence Orthology
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial inner membrane HDA PubMed 
located_in mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial intermembrane space ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion HDA PubMed 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
NADPH-dependent 3-keto-steroid reductase Hsd3b4
Names
3 beta-hydroxysteroid dehydrogenase 4
3 beta-hydroxysteroid dehydrogenase type 4
3 beta-hydroxysteroid dehydrogenase type IV
3-beta-HSD IV
3-beta-hydroxy-5-ene steroid dehydrogenase
3-beta-hydroxysteroid dehydrogenase/delta-5-delta-4 isomerase
NADPH-dependent 3-beta-hydroxy-Delta(5)-steroid dehydrogenase
dihydrotestosterone 3-ketoreductase
hydroxysteroid dehydrogenase-4, delta<5>-3-beta
progesterone reductase
NP_001104806.1
NP_032320.1
XP_017174957.1

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.

mRNA and Protein(s)

  1. NM_001111336.1NP_001104806.1  NADPH-dependent 3-keto-steroid reductase Hsd3b4

    See identical proteins and their annotated locations for NP_001104806.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein. An in-frame AUG is located 26 codons upstream of the annotated translation start site but is not being annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
    Source sequence(s)
    AA987189, BC132402, BG062444, CA492574
    Consensus CDS
    CCDS17665.1
    UniProtKB/Swiss-Prot
    Q61767
    UniProtKB/TrEMBL
    Q3UIU9
    Conserved Domains (1) summary
    cl21454
    Location:5357
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. NM_008294.2NP_032320.1  NADPH-dependent 3-keto-steroid reductase Hsd3b4

    See identical proteins and their annotated locations for NP_032320.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA987189, AI790807, BC132402
    Consensus CDS
    CCDS17665.1
    UniProtKB/Swiss-Prot
    Q61767
    UniProtKB/TrEMBL
    Q3UIU9
    Related
    ENSMUSP00000142522.2, ENSMUST00000196861.2
    Conserved Domains (1) summary
    cl21454
    Location:5357
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    98406387..98417895 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017319468.1XP_017174957.1  NADPH-dependent 3-keto-steroid reductase Hsd3b4 isoform X1

    UniProtKB/Swiss-Prot
    Q61767
    UniProtKB/TrEMBL
    Q3UIU9
    Related
    ENSMUSP00000136588.2, ENSMUST00000179429.6
    Conserved Domains (1) summary
    cl21454
    Location:5357
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
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