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

    Gene ID: 15488, updated on 9-Dec-2024

    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 several functions, including 3-hydroxyacyl-CoA dehydratase activity; protein homodimerization activity; and steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. 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, Dec 2024]
    Expression
    Ubiquitous expression in liver adult (RPKM 28.9), placenta adult (RPKM 27.7) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Hsd17b4 in Genome Data Viewer
    Location:
    18 D1; 18 27.24 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 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 STARR-positive B cell enhancer ABC_E7584 Neighboring gene STARR-positive B cell enhancer ABC_E8716 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:50183799-50183908 Neighboring gene predicted gene, 33335 Neighboring gene STARR-positive B cell enhancer ABC_E4248 Neighboring gene RIKEN cDNA C030005K06 gene Neighboring gene STARR-positive B cell enhancer ABC_E5657 Neighboring gene STARR-positive B cell enhancer ABC_E4249 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)
    • Endonuclease-mediated (5) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    enables 17-beta-hydroxysteroid dehydrogenase (NAD+) activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables 3-hydroxyacyl-CoA dehydratase activity IEA
    Inferred from Electronic Annotation
    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
     
    enables 3-hydroxyacyl-CoA dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables 3-hydroxyacyl-CoA dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    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
     
    enables enoyl-CoA hydratase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables enoyl-CoA hydratase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables estradiol 17-beta-dehydrogenase [NAD(P)+] 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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within Sertoli cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in androgen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in androgen metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in estrogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in estrogen metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fatty acid beta-oxidation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in fatty acid beta-oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in medium-chain fatty-acyl-CoA metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in medium-chain fatty-acyl-CoA metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within very long-chain fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in very long-chain fatty-acyl-CoA metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in very long-chain fatty-acyl-CoA metabolic process 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
     
    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)

    NEW Try the new Transcript table

    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
      UniProtKB/TrEMBL
      Q3TT11, Q3UHW2
      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: GCF_000001635.27-RS_2024_02

    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)