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    Hsd17b12 hydroxysteroid (17-beta) dehydrogenase 12 [ Mus musculus (house mouse) ]

    Gene ID: 56348, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Hsd17b12provided by MGI
    Official Full Name
    hydroxysteroid (17-beta) dehydrogenase 12provided by MGI
    Primary source
    MGI:MGI:1926967
    See related
    Ensembl:ENSMUSG00000027195 AllianceGenome:MGI:1926967
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Kik1; KIK-I; 2610510O05Rik
    Summary
    Enables collagen binding activity; fibronectin binding activity; and heparin binding activity. Acts upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Located in extracellular matrix. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Orthologous to human HSD17B12 (hydroxysteroid 17-beta dehydrogenase 12). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 41.7), liver E18 (RPKM 29.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Hsd17b12 in Genome Data Viewer
    Location:
    2 E1; 2 51.62 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (93863042..93988254, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (94032697..94157909, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_05169 Neighboring gene predicted gene 13889 Neighboring gene alkB homolog 3, opposite strand 1 Neighboring gene alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:93850845-93851104 Neighboring gene STARR-seq mESC enhancer starr_05171 Neighboring gene STARR-seq mESC enhancer starr_05172 Neighboring gene STARR-positive B cell enhancer ABC_E511 Neighboring gene MIR670 host gene (non-protein coding) Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:94018945-94019238 Neighboring gene predicted gene, 39885 Neighboring gene microRNA 129-2 Neighboring gene microRNA 129b

    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. Diet, obesity, and hyperglycemia in LG/J and SM/J mice. Ehrich TH, et al. Obes Res, 2003 Nov. PMID 14627762
    2. The Hydroxysteroid (17β) Dehydrogenase Family Gene HSD17B12 Is Involved in the Prostaglandin Synthesis Pathway, the Ovarian Function, and Regulation of Fertility. Kemiläinen H, et al. Endocrinology, 2016 Oct. PMID 27490311
    3. Differential androgen and estrogen substrates specificity in the mouse and primates type 12 17beta-hydroxysteroid dehydrogenase. Blanchard PG, et al. J Endocrinol, 2007 Aug. PMID 17641292
    4. Hydroxysteroid (17{beta}) dehydrogenase 12 is essential for mouse organogenesis and embryonic survival. Rantakari P, et al. Endocrinology, 2010 Apr. PMID 20130115
    5. Hydroxysteroid (17β) dehydrogenase 12 is essential for metabolic homeostasis in adult mice. Heikelä H, et al. Am J Physiol Endocrinol Metab, 2020 Sep 1. PMID 32691632

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hydroxysteroid (17beta) dehydrogenase 12 is essential for metabolic homeostasis in adult mice.
      Title: Hydroxysteroid (17β) dehydrogenase 12 is essential for metabolic homeostasis in adult mice.
    2. important role in female fertility through its role in arachidonic acid metabolism
      Title: The Hydroxysteroid (17β) Dehydrogenase Family Gene HSD17B12 Is Involved in the Prostaglandin Synthesis Pathway, the Ovarian Function, and Regulation of Fertility.
    3. Hsd17b12 is essential for mouse organogenesis and embryonic survival.
      Title: Hydroxysteroid (17{beta}) dehydrogenase 12 is essential for mouse organogenesis and embryonic survival.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (2) 
    • Targeted (1)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables fibronectin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables very-long-chain 3-oxoacyl-CoA reductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables very-long-chain 3-oxoacyl-CoA reductase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in estrogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within extracellular matrix organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid elongation, saturated fatty acid IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid elongation, saturated fatty acid ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of cell-substrate adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of fatty acid elongase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of fatty acid elongase complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    very-long-chain 3-oxoacyl-CoA reductase
    Names
    17-beta-HSD 12
    17-beta-hydroxysteroid dehydrogenase 12
    3-ketoacyl-CoA reductase
    KAR
    estradiol 17-beta-dehydrogenase 12
    keratoadhesin
    keratonectin
    steroid dehydrogenase
    NP_062631.1

    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_019657.4 → NP_062631.1  very-long-chain 3-oxoacyl-CoA reductase

      Status: PROVISIONAL

      Source sequence(s)
      AL772372, BX284932
      Consensus CDS
      CCDS16458.1
      UniProtKB/Swiss-Prot
      O70503, Q3TID1, Q3U7V9, Q542N3, Q8CI39
      UniProtKB/TrEMBL
      Q0VGQ1
      Related
      ENSMUSP00000028619.5, ENSMUST00000028619.5
      Conserved Domains (3) summary
      cd05356
      Location:50 → 288
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
      COG0300
      Location:46 → 305
      DltE; Short-chain dehydrogenase [General function prediction only]
      cl21454
      Location:4 → 83
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      93863042..93988254 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O70503.1 GenPept UniProtKB/Swiss-Prot:O70503

    Gene LinkOut

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

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