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    Akr1c6 aldo-keto reductase family 1, member C6 [ Mus musculus (house mouse) ]

    Gene ID: 83702, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Akr1c6provided by MGI
    Official Full Name
    aldo-keto reductase family 1, member C6provided by MGI
    Primary source
    MGI:MGI:1933427
    See related
    Ensembl:ENSMUSG00000021210 AllianceGenome:MGI:1933427
    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
    Akr1c1; Hsd17b5; 3alpha-HSD
    Summary
    Enables aldo-keto reductase (NADPH) activity and estradiol 17-beta-dehydrogenase [NAD(P)+] activity. Involved in steroid biosynthetic process. Acts upstream of or within negative regulation of mRNA splicing, via spliceosome and steroid metabolic process. Predicted to be located in cytoplasm and nucleus. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; liver and biliary system; lung; metanephros; and sensory organ. Human ortholog(s) of this gene implicated in 46,XY sex reversal 8; B-lymphoblastic leukemia/lymphoma; T-cell acute lymphoblastic leukemia; and leukemia. Orthologous to several human genes including AKR1C4 (aldo-keto reductase family 1 member C4). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward liver adult (RPKM 103.4) See more
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    Genomic context

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    See Akr1c6 in Genome Data Viewer
    Location:
    13 A1; 13 2.48 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (4484354..4507529)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (4434311..4457530)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1, member C12 Neighboring gene STARR-seq mESC enhancer starr_33505 Neighboring gene STARR-seq mESC enhancer starr_33506 Neighboring gene STARR-seq mESC enhancer starr_33507 Neighboring gene predicted gene 9973 Neighboring gene STARR-seq mESC enhancer starr_33508 Neighboring gene STARR-seq mESC enhancer starr_33510 Neighboring gene aldo-keto reductase family 1, member C20 Neighboring gene STARR-seq mESC enhancer starr_33513 Neighboring gene predicted gene, 40657

    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. Structure and activity of the murine type 5 17beta-hydroxysteroid dehydrogenase gene(1). Rheault P, et al. Biochim Biophys Acta, 1999 Oct 6. PMID 10500239
    2. Assignment of HSD17B5 encoding type 5 17 beta-hydroxysteroid dehydrogenase to human chromosome bands 10p15-->p14 and mouse chromosome 13 region A2 by in situ hybridization: identification of a new syntenic relationship. Rheault P, et al. Cytogenet Cell Genet, 1999. PMID 10393440
    3. Several distinct enzymes catalyze 20alpha-hydroxysteroid dehydrogenase activity in mouse liver and kidney. Imamura Y, et al. J Steroid Biochem Mol Biol, 2007 Oct. PMID 17629694
    4. Molecular cloning and characterization of mouse estradiol 17 beta-dehydrogenase (A-specific), a member of the aldoketoreductase family. Deyashiki Y, et al. J Biol Chem, 1995 May 5. PMID 7737980
    5. Characterization of brain neurons that express enzymes mediating neurosteroid biosynthesis. Agís-Balboa RC, et al. Proc Natl Acad Sci U S A, 2006 Sep 26. PMID 16984997, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A catalysis-independent role for AKR1C3 on AR activity via Siah2 has been identified.
      Title: The Steroidogenic Enzyme AKR1C3 Regulates Stability of the Ubiquitin Ligase Siah2 in Prostate Cancer Cells.
    2. 17beta-HSD 5 gene is up-regulated in both male and female developing lungs of the fetal mouse.
      Title: 17Beta-HSD type 5 expression and the emergence of differentiated epithelial Type II cells in fetal lung: a novel role for androgen during the surge of surfactant.
    3. This study evaluates 5alpha-R type I and 3alpha-HSD mRNA expression level in mouse brain by using in situ hybridization.
      Title: Characterization of brain neurons that express enzymes mediating neurosteroid biosynthesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    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 15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables Delta4-3-oxosteroid 5beta-reductase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables aldo-keto reductase (NADPH) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables aldo-keto reductase (NADPH) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables aldose reductase (NADPH) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aldose reductase (NADPH) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables all-trans-retinol dehydrogenase (NAD+) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables androsterone dehydrogenase (B-specific) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables androsterone dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables androsterone dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables bile acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables bile acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables carboxylic acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables chlordecone reductase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables geranylgeranyl reductase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ketoreductase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ketosteroid monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ketosteroid monooxygenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables retinal dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables testosterone 17-beta-dehydrogenase (NADP+) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables testosterone dehydrogenase [NAD(P)+] activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in daunorubicin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in doxorubicin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in progesterone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in prostaglandin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to estrogen ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to xenobiotic stimulus ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in steroid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within steroid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    estradiol 17 beta-dehydrogenase 5
    Names
    17-beta-HSD 5
    17HSD type 5
    aldo-keto reductase family 1, member C1 (aldehyde reductase)
    estradiol 17-beta-dehydrogenase (A-specific)
    hydroxysteroid 17-beta dehydrogenase 5

    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_001418783.1 → NP_001405712.1  estradiol 17 beta-dehydrogenase 5 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC166056

    2. NM_001418784.1 → NP_001405713.1  estradiol 17 beta-dehydrogenase 5 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC166056

    3. NM_030611.4 → NP_085114.1  estradiol 17 beta-dehydrogenase 5 isoform 1

      See identical proteins and their annotated locations for NP_085114.1

      Status: VALIDATED

      Source sequence(s)
      AC166056
      Consensus CDS
      CCDS26223.1
      UniProtKB/Swiss-Prot
      P70694
      UniProtKB/TrEMBL
      Q3UEM0
      Related
      ENSMUSP00000021630.9, ENSMUST00000021630.15
      Conserved Domains (2) summary
      COG0656
      Location:5 → 323
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
      COG0667
      Location:16 → 298
      Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      4484354..4507529
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P70694.1 GenPept UniProtKB/Swiss-Prot:P70694

    Gene LinkOut

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

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