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

Gene ID: 6718, updated on 2-Nov-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
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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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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

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