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

Summary

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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Differential activity and expression of human 5beta-reductase (AKR1D1) splice variants.
Title: Differential activity and expression of human 5β-reductase (AKR1D1) splice variants.
Diagnostic and prognostic values of AKR1C3 and AKR1D1 in hepatocellular carcinoma.
Title: Diagnostic and prognostic values of AKR1C3 and AKR1D1 in hepatocellular carcinoma.
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.
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.
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.
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.
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.
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].
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

Associated conditions

Description	Tests
Congenital bile acid synthesis defect 2 MedGen: C1856127 OMIM: 235555 GeneReviews: Pediatric Genetic Cholestatic Liver Disease Overview	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481825

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-35425 (e-PCR)
- UniSTS:41341

NoName (e-PCR)
- UniSTS:486834

NoName (e-PCR)
- UniSTS:482513

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

EC 1.3.1.3

NP_001177836.1

EC 1.3.1.3

NP_005980.1

EC 1.3.1.3

XP_047276719.1

EC 1.3.1.3

XP_054214845.1

EC 1.3.1.3

XP_054214846.1

EC 1.3.1.3

XP_054214847.1

EC 1.3.1.3

XP_054214848.1

EC 1.3.1.3

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

NG_023342.1 RefSeqGene

Range

5028..46874

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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)
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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

138076459..138118305

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

139311690..139427796

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A1L4P6, A8K060, B4DPN3, B4DPN8, P51857
XM_054358871.1 → XP_054214846.1 aldo-keto reductase family 1 member D1 isoform X2

UniProtKB/Swiss-Prot

A1L4P6, A8K060, B4DPN3, B4DPN8, P51857
XM_054358873.1 → XP_054214848.1 aldo-keto reductase family 1 member D1 isoform X1
XM_054358872.1 → XP_054214847.1 aldo-keto reductase family 1 member D1 isoform X1