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    AKR1D1 aldo-keto reductase family 1 member D1 [ Homo sapiens (human) ]

    Gene ID: 6718, updated on 28-Oct-2024

    Summary

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    Official Symbol
    AKR1D1provided by HGNC
    Official Full Name
    aldo-keto reductase family 1 member D1provided by HGNC
    Primary source
    HGNC:HGNC:388
    See related
    Ensembl:ENSG00000122787 MIM:604741; AllianceGenome:HGNC:388
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CBAS2; SRD5B1; 3o5bred
    Summary
    The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]
    Expression
    Restricted expression toward liver (RPKM 96.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See AKR1D1 in Genome Data Viewer
    Location:
    7q33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (138076459..138118305)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (139311690..139427796)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (137761205..137803051)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Der1-like domain family, member 2 pseudogene Neighboring gene uncharacterized LOC124901753 Neighboring gene RN7SK pseudogene 223 Neighboring gene small nucleolar RNA U13 Neighboring gene microRNA 4468 Neighboring gene regulator of chromosome condensation 2 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ(4)-3-Oxosteroid-5β-Reductase Deficiency. Zhao J, et al. J Mol Diagn, 2023 Apr. PMID 36739965
    2. Crystal structures of human Delta4-3-ketosteroid 5beta-reductase (AKR1D1) reveal the presence of an alternative binding site responsible for substrate inhibition. Faucher F, et al. Biochemistry, 2008 Dec 23. PMID 19075558
    3. SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency. Ueki I, et al. J Gastroenterol Hepatol, 2009 May. PMID 19175828
    4. Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency. Drury JE, et al. J Biol Chem, 2010 Aug 6. PMID 20522910, Free PMC Article
    5. The effect of disease associated point mutations on 5β-reductase (AKR1D1) enzyme function. Mindnich R, et al. Chem Biol Interact, 2011 May 30. PMID 21185810, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Delta[4]-3-Oxosteroid-5beta-Reductase Deficiency.
      Title: Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ(4)-3-Oxosteroid-5β-Reductase Deficiency.
    2. Differential activity and expression of human 5beta-reductase (AKR1D1) splice variants.
      Title: Differential activity and expression of human 5β-reductase (AKR1D1) splice variants.
    3. Diagnostic and prognostic values of AKR1C3 and AKR1D1 in hepatocellular carcinoma.
      Title: Diagnostic and prognostic values of AKR1C3 and AKR1D1 in hepatocellular carcinoma.
    4. AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.
      Title: AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.
    5. may have a crucial role in the pathogenesis and progression of the non-alcoholic fatty liver disease.
      Title: AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease.
    6. The correlation between CYP2C9 and AKR1D1 genetic profile and the PK parameters for S-(+) and R-(-)-IBP was evaluated.
      Title: AKR1D1*36 C>T (rs1872930) allelic variant is associated with variability of the CYP2C9 genotype predicted pharmacokinetics of ibuprofen enantiomers - a pilot study in healthy volunteers.
    7. AKR1D1 regulates glucocorticoid availability in human hepatoma cells. AKR1D1 regulates glucocorticoid receptor activation in human hepatoma cells.
      Title: AKR1D1 regulates glucocorticoid availability and glucocorticoid receptor activation in human hepatoma cells.
    8. dysregulation of AKR1D1 disrupted bile acid and steroid hormone homeostasis, which may contribute to the pathogenesis of diabetes.
      Title: Dysregulation of Δ(4)-3-oxosteroid 5β-reductase in diabetic patients: Implications and mechanisms.
    9. infant proved to be a compound heterozygote of the AKR1D1 variants c.579+2delT and c.853C>T(p.Q285X), two novel mutations originated from his mother and father, respectively
      Title: [Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene].
    10. Impaired NADPH binding and hydride transfer is the molecular basis for bile acid deficiency in patients with the P133R mutation in AKR1D1.
      Title: In-Depth Dissection of the P133R Mutation in Steroid 5β-Reductase (AKR1D1): A Molecular Basis of Bile Acid Deficiency.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide association of mood-incongruent psychotic bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 GOA

    Function Evidence Code Pubs
    enables Delta4-3-oxosteroid 5beta-reductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables aldo-keto reductase (NADPH) activity TAS
    Traceable Author Statement
    more info
    		  
    enables aldose reductase (NADPH) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ketosteroid monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables steroid binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables steroid dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in C21-steroid hormone metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in androgen metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in androgen metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within bile acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in bile acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in bile acid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cholesterol catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in digestion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    aldo-keto reductase family 1 member D1
    Names
    delta(4)-3-ketosteroid 5-beta-reductase
    delta(4)-3-oxosteroid 5-beta-reductase
    steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1)
    NP_001177835.1
    NP_001177836.1
    NP_005980.1
    XP_047276719.1
    XP_054214845.1
    XP_054214846.1
    XP_054214847.1
    XP_054214848.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_023342.1 RefSeqGene

      Range
      5028..46874
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190906.2 → NP_001177835.1  aldo-keto reductase family 1 member D1 isoform 2

      See identical proteins and their annotated locations for NP_001177835.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC083867, AK298421, AK298428
      Consensus CDS
      CCDS55170.1
      UniProtKB/Swiss-Prot
      P51857
      Related
      ENSP00000402374.2, ENST00000411726.6
      Conserved Domains (1) summary
      cl00470
      Location:15 → 281
      AKR_SF; Aldo-keto reductase (AKR) superfamily

    2. NM_001190907.2 → NP_001177836.1  aldo-keto reductase family 1 member D1 isoform 3

      See identical proteins and their annotated locations for NP_001177836.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC083867, AK298421
      Consensus CDS
      CCDS55169.1
      UniProtKB/Swiss-Prot
      P51857
      Related
      ENSP00000389197.1, ENST00000432161.5
      Conserved Domains (1) summary
      cd19109
      Location:15 → 286
      AKR_AKR1D1-3; AKR1D family of aldo-keto reductase (AKR)

    3. NM_005989.4 → NP_005980.1  aldo-keto reductase family 1 member D1 isoform 1

      See identical proteins and their annotated locations for NP_005980.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC083867, Z28339
      Consensus CDS
      CCDS5846.1
      UniProtKB/Swiss-Prot
      A1L4P6, A8K060, B4DPN3, B4DPN8, P51857
      Related
      ENSP00000242375.3, ENST00000242375.8
      Conserved Domains (1) summary
      cd19109
      Location:15 → 322
      AKR_AKR1D1-3; AKR1D family of aldo-keto reductase (AKR)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      138076459..138118305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420763.1 → XP_047276719.1  aldo-keto reductase family 1 member D1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      139311690..139427796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358870.1 → XP_054214845.1  aldo-keto reductase family 1 member D1 isoform X2

      UniProtKB/Swiss-Prot
      A1L4P6, A8K060, B4DPN3, B4DPN8, P51857

    2. XM_054358871.1 → XP_054214846.1  aldo-keto reductase family 1 member D1 isoform X2

      UniProtKB/Swiss-Prot
      A1L4P6, A8K060, B4DPN3, B4DPN8, P51857

    3. XM_054358873.1 → XP_054214848.1  aldo-keto reductase family 1 member D1 isoform X1

    4. XM_054358872.1 → XP_054214847.1  aldo-keto reductase family 1 member D1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51857.1 GenPept UniProtKB/Swiss-Prot:P51857

    Gene LinkOut

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

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