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Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 [ Mus musculus (house mouse) ]

Gene ID: 15488, updated on 26-Sep-2022

Summary

Official Symbol
Hsd17b4provided by MGI
Official Full Name
hydroxysteroid (17-beta) dehydrogenase 4provided by MGI
Primary source
MGI:MGI:105089
See related
Ensembl:ENSMUSG00000024507 AllianceGenome:MGI:105089
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
Also known as
DBP; MFP2; MFE-2; MPF-2; Mfp-2; perMFE-2; 17[b]-HSD; 17-beta-HSD
Summary
Predicted to enable hydro-lyase activity; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor; and protein homodimerization activity. Acts upstream of or within Sertoli cell development; fatty acid beta-oxidation; and very long-chain fatty acid metabolic process. Located in peroxisome. Is expressed in several structures, including brain; genitourinary system; hindlimb phalanx; integumental system; and jaw. Used to study D-bifunctional protein deficiency. Human ortholog(s) of this gene implicated in D-bifunctional protein deficiency; Perrault syndrome; and Stiff-Person syndrome. Orthologous to human HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver adult (RPKM 28.9), placenta adult (RPKM 27.7) and 28 other tissues See more
Orthologs
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Genomic context

See Hsd17b4 in Genome Data Viewer
Location:
18; 18 D1
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (50261268..50329337)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (50128201..50196270)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene tumor necrosis factor, alpha-induced protein 8 Neighboring gene predicted gene, 33335 Neighboring gene RIKEN cDNA C030005K06 gene Neighboring gene CD63 antigen, pseudogene Neighboring gene predicted gene, 33376 Neighboring gene predicted gene, 46613 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables (3R)-hydroxyacyl-CoA dehydrogenase (NAD) activity IEA
Inferred from Electronic Annotation
more info
 
enables 17-beta-hydroxysteroid dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables 17-beta-hydroxysteroid dehydrogenase (NAD+) activity ISO
Inferred from Sequence Orthology
more info
 
enables 3-hydroxyacyl-CoA dehydratase activity ISO
Inferred from Sequence Orthology
more info
 
enables 3-hydroxyacyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables 3-hydroxyacyl-CoA dehydrogenase activity ISO
Inferred from Sequence Orthology
more info
 
enables 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity IEA
Inferred from Electronic Annotation
more info
 
enables enoyl-CoA hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables enoyl-CoA hydratase activity ISO
Inferred from Sequence Orthology
more info
 
enables estradiol 17-beta-dehydrogenase activity ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
 
enables long-chain-enoyl-CoA hydratase activity ISO
Inferred from Sequence Orthology
more info
 
enables lyase activity IEA
Inferred from Electronic Annotation
more info
 
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in mitochondrion HDA PubMed 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
 
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
located_in peroxisome ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
peroxisomal multifunctional enzyme type 2
Names
17-beta-HSD 4
17-beta-hydroxysteroid dehydrogenase 4
D-bifunctional protein
multifunctional protein 2
NP_032318.2

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_008292.4NP_032318.2  peroxisomal multifunctional enzyme type 2

    See identical proteins and their annotated locations for NP_032318.2

    Status: VALIDATED

    Source sequence(s)
    AC118632, AK004866
    Consensus CDS
    CCDS29242.1
    UniProtKB/Swiss-Prot
    P51660, Q9DBM3
    Related
    ENSMUSP00000025385.7, ENSMUST00000025385.7
    Conserved Domains (6) summary
    PLN02864
    Location:329604
    PLN02864; enoyl-CoA hydratase
    cd05353
    Location:5254
    hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs
    PRK05653
    Location:6226
    fabG; 3-ketoacyl-(acyl-carrier-protein) reductase; Validated
    cd03448
    Location:484604
    HDE_HSD; HDE_HSD The R-hydratase-like hot dog fold of the 17-beta-hydroxysteriod dehydrogenase (HSD), and Hydratase-Dehydrogenase-Epimerase (HDE) proteins. Other enzymes with this fold include MaoC dehydratase, and the fatty acid synthase beta subunit.
    pfam02036
    Location:633730
    SCP2; SCP-2 sterol transfer family
    cl00509
    Location:394443
    hot_dog; The hotdog fold was initially identified in the E. coli FabA (beta-hydroxydecanoyl-acyl carrier protein (ACP)-dehydratase) structure and subsequently in 4HBT (4-hydroxybenzoyl-CoA thioesterase) from Pseudomonas. A number of other seemingly unrelated ...

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_000084.7 Reference GRCm39 C57BL/6J

    Range
    50261268..50329337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)