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    Hsd17b13 hydroxysteroid (17-beta) dehydrogenase 13 [ Mus musculus (house mouse) ]

    Gene ID: 243168, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Hsd17b13provided by MGI
    Official Full Name
    hydroxysteroid (17-beta) dehydrogenase 13provided by MGI
    Primary source
    MGI:MGI:2140804
    See related
    Ensembl:ENSMUSG00000034528 AllianceGenome:MGI:2140804
    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
    Pan1b; PAN1B-like
    Summary
    Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and steroid dehydrogenase activity. Predicted to act upstream of or within positive regulation of lipid biosynthetic process. Located in lipid droplet. Orthologous to human HSD17B13 (hydroxysteroid 17-beta dehydrogenase 13). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in liver E18 (RPKM 99.4) and liver adult (RPKM 46.5) See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 E5; 5 50.46 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (104103308..104125254, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (103955442..103977388, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene kelch-like 8 Neighboring gene predicted gene, 42139 Neighboring gene predicted gene, 24897 Neighboring gene STARR-positive B cell enhancer mm9_chr5:104356466-104356766 Neighboring gene STARR-seq mESC enhancer starr_13815 Neighboring gene hydroxysteroid (17-beta) dehydrogenase 11 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:104436899-104437123 Neighboring gene STARR-seq mESC enhancer starr_13817 Neighboring gene STARR-seq mESC enhancer starr_13818 Neighboring gene STARR-positive B cell enhancer ABC_E2165 Neighboring gene microRNA 5619 Neighboring gene nudix hydrolase 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Phosphorylation of 17β-hydroxysteroid dehydrogenase 13 at serine 33 attenuates nonalcoholic fatty liver disease in mice. Su W, et al. Nat Commun, 2022 Nov 2. PMID 36323699, Free PMC Article
    2. 17-Beta Hydroxysteroid Dehydrogenase 13 Deficiency Does Not Protect Mice From Obesogenic Diet Injury. Ma Y, et al. Hepatology, 2021 May. PMID 32779242, Free PMC Article
    3. Hydroxysteroid (17β) dehydrogenase 13 deficiency triggers hepatic steatosis and inflammation in mice. Adam M, et al. FASEB J, 2018 Jun. PMID 29401633
    4. Comparative proteomic study reveals 17β-HSD13 as a pathogenic protein in nonalcoholic fatty liver disease. Su W, et al. Proc Natl Acad Sci U S A, 2014 Aug 5. PMID 25028495, Free PMC Article
    5. 17beta-Hydroxysteroid dehydrogenase type 13 is a liver-specific lipid droplet-associated protein. Horiguchi Y, et al. Biochem Biophys Res Commun, 2008 May 30. PMID 18359291

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phosphorylation of 17beta-hydroxysteroid dehydrogenase 13 at serine 33 attenuates nonalcoholic fatty liver disease in mice.
      Title: Phosphorylation of 17β-hydroxysteroid dehydrogenase 13 at serine 33 attenuates nonalcoholic fatty liver disease in mice.
    2. data indicate that disruption of Hsd17b13 impairs hepatic-lipid metabolism in mice, resulting in liver steatosis and inflammation, but the enzyme does not play a major role in the regulation of reproductive functions.
      Title: Hydroxysteroid (17β) dehydrogenase 13 deficiency triggers hepatic steatosis and inflammation in mice.
    3. 17beta-HSD13 as a pathogenic protein in the development of nonalcoholic fatty liver disease.
      Title: Comparative proteomic study reveals 17β-HSD13 as a pathogenic protein in nonalcoholic fatty liver disease.
    4. 17betaHSD type 13 may have a distinct physiological role as a lipid droplet-associated protein in the liver.
      Title: 17beta-Hydroxysteroid dehydrogenase type 13 is a liver-specific lipid droplet-associated protein.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables all-trans-retinol dehydrogenase (NAD+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables estradiol 17-beta-dehydrogenase [NAD(P)] activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    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
    		  
    enables steroid dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within positive regulation of lipid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lipid droplet ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    17-beta-hydroxysteroid dehydrogenase 13
    Names
    17-beta-HSD 13
    hepatic retinol/retinal dehydrogenase
    short-chain dehydrogenase/reductase 9
    NP_001156958.1
    NP_932147.2

    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_001163486.1 → NP_001156958.1  17-beta-hydroxysteroid dehydrogenase 13 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001156958.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (2).
      Source sequence(s)
      AI048624, AI573700, DV660487
      Consensus CDS
      CCDS51576.1
      UniProtKB/TrEMBL
      A8Y5N4
      Related
      ENSMUSP00000108422.3, ENSMUST00000112803.3
      Conserved Domains (2) summary
      cd05339
      Location:38 → 277
      17beta-HSDXI-like_SDR_c; human 17-beta-hydroxysteroid dehydrogenase XI-like, classical (c) SDRs
      pfam00106
      Location:37 → 228
      adh_short; short chain dehydrogenase

    2. NM_198030.2 → NP_932147.2  17-beta-hydroxysteroid dehydrogenase 13 isoform 2 precursor

      See identical proteins and their annotated locations for NP_932147.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate exon at its 3' terminus, compared to variant 1, which results in a protein (isoform 2) with a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI048624, AI573700, AL714024, DV660487
      Consensus CDS
      CCDS19480.1
      UniProtKB/Swiss-Prot
      A8Y5N6, Q8CIU2, Q8VCR2
      Related
      ENSMUSP00000046772.9, ENSMUST00000048118.15
      Conserved Domains (2) summary
      cd05339
      Location:38 → 269
      17beta-HSDXI-like_SDR_c; human 17-beta-hydroxysteroid dehydrogenase XI-like, classical (c) SDRs
      pfam00106
      Location:37 → 228
      adh_short; short chain dehydrogenase

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      104103308..104125254 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VCR2.2 GenPept UniProtKB/Swiss-Prot:Q8VCR2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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