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    Akr1d1 aldo-keto reductase family 1, member D1 [ Mus musculus (house mouse) ]

    Gene ID: 208665, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Akr1d1provided by MGI
    Official Full Name
    aldo-keto reductase family 1, member D1provided by MGI
    Primary source
    MGI:MGI:2384785
    See related
    Ensembl:ENSMUSG00000038641 AllianceGenome:MGI:2384785
    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
    Summary
    Predicted to enable 3-oxo-5-beta-steroid 4-dehydrogenase activity; alditol:NADP+ 1-oxidoreductase activity; and ketosteroid monooxygenase activity. Predicted to be involved in cellular hormone metabolic process; cholesterol catabolic process; and digestion. Predicted to act upstream of or within bile acid biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; heart; hemolymphoid system gland; and nervous system. Human ortholog(s) of this gene implicated in congenital bile acid synthesis defect 2. Orthologous to human AKR1D1 (aldo-keto reductase family 1 member D1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in adrenal adult (RPKM 31.3), liver adult (RPKM 17.4) and 2 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    6 B1; 6 16.44 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (37506913..37551856)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (37529978..37574921)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene cAMP responsive element binding protein 3-like 2 Neighboring gene STARR-positive B cell enhancer mm9_chr6:37392120-37392421 Neighboring gene predicted gene, 33275 Neighboring gene STARR-positive B cell enhancer ABC_E4821 Neighboring gene predicted gene, 33318 Neighboring gene STARR-seq mESC enhancer starr_15587 Neighboring gene STARR-seq mESC enhancer starr_15588 Neighboring gene predicted gene, 33429 Neighboring gene slowmo homolog 2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_15591 Neighboring gene STARR-seq mESC enhancer starr_15593 Neighboring gene STARR-seq mESC enhancer starr_15594 Neighboring gene Y box protein 1, pseudogene 2 Neighboring gene predicted gene, 38791

    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. AKR1D1 knockout mice develop a sex-dependent metabolic phenotype. Gathercole LL, et al. J Endocrinol, 2022 Apr 13. PMID 35318963, Free PMC Article
    2. A cluster of eight hydroxysteroid dehydrogenase genes belonging to the aldo-keto reductase supergene family on mouse chromosome 13. Vergnes L, et al. J Lipid Res, 2003 Mar. PMID 12562828
    3. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article
    4. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    Pathways from PubChem

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    General gene information

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    Homology

    Clone Names

    • MGC25814

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-oxo-5-beta-steroid 4-dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables aldose reductase (NADPH) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables delta4-3-oxosteroid 5beta-reductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ketosteroid monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables steroid dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in C21-steroid hormone metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in androgen metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in androgen metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within bile acid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within bile acid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cholesterol catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in digestion ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    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
    		  

    General protein information

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    Preferred Names
    aldo-keto reductase family 1 member D1
    Names
    3-oxo-5-beta-steroid 4-dehydrogenase
    delta(4)-3-ketosteroid 5-beta-reductase
    delta(4)-3-oxosteroid 5-beta-reductase
    NP_663339.1
    XP_006505888.1
    XP_006505889.1
    XP_006505890.1
    XP_006505891.1
    XP_011239571.1
    XP_017176967.1
    XP_017176968.1

    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_145364.2 → NP_663339.1  aldo-keto reductase family 1 member D1

      See identical proteins and their annotated locations for NP_663339.1

      Status: VALIDATED

      Source sequence(s)
      AC157101, BF322487
      Consensus CDS
      CCDS20007.1
      UniProtKB/Swiss-Prot
      Q8VCX1
      Related
      ENSMUSP00000048830.8, ENSMUST00000040987.11
      Conserved Domains (1) summary
      cd19109
      Location:15 → 321
      AKR_AKR1D1-3; AKR1D family of aldo-keto reductase (AKR)

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      37506913..37551856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006505825.1 → XP_006505888.1  aldo-keto reductase family 1 member D1 isoform X3

      See identical proteins and their annotated locations for XP_006505888.1

      UniProtKB/Swiss-Prot
      Q8VCX1
      Conserved Domains (1) summary
      cd19109
      Location:15 → 321
      AKR_AKR1D1-3; AKR1D family of aldo-keto reductase (AKR)

    2. XM_011241269.2 → XP_011239571.1  aldo-keto reductase family 1 member D1 isoform X6

      Conserved Domains (1) summary
      cl00470
      Location:33 → 150
      AKR_SF; Aldo-keto reductase (AKR) superfamily

    3. XM_006505828.4 → XP_006505891.1  aldo-keto reductase family 1 member D1 isoform X7

      Conserved Domains (1) summary
      cl00470
      Location:33 → 143
      AKR_SF; Aldo-keto reductase (AKR) superfamily

    4. XM_017321478.2 → XP_017176967.1  aldo-keto reductase family 1 member D1 isoform X1

      Conserved Domains (1) summary
      cl00470
      Location:33 → 303
      AKR_SF; Aldo-keto reductase (AKR) superfamily

    5. XM_017321479.2 → XP_017176968.1  aldo-keto reductase family 1 member D1 isoform X2

      Conserved Domains (1) summary
      cl00470
      Location:33 → 303
      AKR_SF; Aldo-keto reductase (AKR) superfamily

    6. XM_006505826.3 → XP_006505889.1  aldo-keto reductase family 1 member D1 isoform X4

      Conserved Domains (1) summary
      cl00470
      Location:33 → 300
      AKR_SF; Aldo-keto reductase (AKR) superfamily

    7. XM_006505827.2 → XP_006505890.1  aldo-keto reductase family 1 member D1 isoform X5

      Conserved Domains (1) summary
      cl00470
      Location:9 → 205
      AKR_SF; Aldo-keto reductase (AKR) superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VCX1.1 GenPept UniProtKB/Swiss-Prot:Q8VCX1

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