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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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