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

Gene ID: 6718, updated on 5-Jul-2025
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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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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Delta4-3-oxosteroid 5beta-reductase activity IEA
Inferred from Electronic Annotation
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 oxidoreductase activity IEA
Inferred from Electronic Annotation
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 alcohol metabolic process IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
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 
involved_in hormone metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in monocarboxylic acid 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 IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
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

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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_001190906.2NP_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:15281
    AKR_SF; Aldo-keto reductase (AKR) superfamily
  2. NM_001190907.2NP_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:15286
    AKR_AKR1D1-3; AKR1D family of aldo-keto reductase (AKR)
  3. NM_005989.4NP_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:15322
    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_047420763.1XP_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_054358870.1XP_054214845.1  aldo-keto reductase family 1 member D1 isoform X2

    UniProtKB/Swiss-Prot
    A1L4P6, A8K060, B4DPN3, B4DPN8, P51857
  2. XM_054358871.1XP_054214846.1  aldo-keto reductase family 1 member D1 isoform X2

    UniProtKB/Swiss-Prot
    A1L4P6, A8K060, B4DPN3, B4DPN8, P51857
  3. XM_054358873.1XP_054214848.1  aldo-keto reductase family 1 member D1 isoform X1

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