AKR1D1 - aldo-keto reductase family 1 member D1 Gene

Homo sapiens

Also known as CBAS2; SRD5B1; 3o5bred

Gene ID: 6718 | Gene type: protein coding

About AKR1D1

Cytogenetic location: 7q33 Genomic coordinates (GRCh38): 7:138,076,459-138,118,305 (from NCBI)

This gene has 6 transcripts (splice variants), 275 orthologues, 16 paralogues and is associated with 3 phenotypes. Restricted expression toward liver (RPKM 96.8).

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]

AKR1D1 Products(3)

mRNA	Protein	Name
NM_001190906.2	NP_001177835.1	aldo-keto reductase family 1 member D1 isoform 2
NM_001190907.2	NP_001177836.1	aldo-keto reductase family 1 member D1 isoform 3
NM_005989.4	NP_005980.1	aldo-keto reductase family 1 member D1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in C21-steroid hormone metabolic process	IDA IDA: Inferred from direct assay	7508385	GOA
involved in androgen metabolic process	IDA IDA: Inferred from direct assay	7508385	GOA
acts upstream of or within bile acid biosynthetic process	IDA IDA: Inferred from direct assay	7508385	GOA
involved in bile acid biosynthetic process	IDA IDA: Inferred from direct assay	7508385	GOA
involved in cholesterol catabolic process	IDA IDA: Inferred from direct assay	7508385	GOA
involved in digestion	IDA IDA: Inferred from direct assay	7508385	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	7508385	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AKR1D1 Protein Structure

Aldo_ket_red

0
100
200
300
326 a.a.

Protein Preferred Names

Protein Names

aldo-keto reductase family 1 member D1

delta(4)-3-ketosteroid 5-beta-reductase

Related Diseases

Diseases

Alias

Bile Acid Synthesis Defect, Congenital, 2

Cholestasis With Delta(4)-3-Oxosteroid 5-Beta-Reductase Deficiency	CBAS2
Congenital Bile Acid Synthesis Defect 2	Congenital Bile Acid Synthesis Defect Type 2
Congenital Bile Acid Synthesis Defect, Type 2	Basd2
Bile Acid Synthesis Defect, Congenital, Type 2

Congenital Bile Acid Synthesis Defect

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency	Cba
Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency	Basd
Bile Acid Synthesis Defect, Congenital, 1

Bile Acid Synthesis Defect, Congenital, 3

Congenital Bile Acid Synthesis Defect 3	CBAS3
Oxysterol 7-Alpha-Hydroxylase Deficiency	Congenital Bile Acid Synthesis Defect Type 3
Basd3	Bile Acid Synthesis Defect, Congenital, Type 3

Intrahepatic Cholestasis

Cholestasis, Intrahepatic	Neonatal Intrahepatic Cholestasis
Cholestasis Intrahepatic	Cholestasis Of Pregnancy

Cholestasis-Lymphedema Syndrome

Aagenaes Syndrome	Chls
Lcs	Cholestasis-Edema Syndrome, Norwegian Type
Lymphedema-Cholestasis Syndrome	Cholestasis Lymphedema Syndrome
Lcs1	Lymphedema Cholestasis Syndrome

Liver Disease

Liver Failure	Liver Diseases
Abnormality Of The Liver	Liver Dysfunction
Disorder Of Liver	Hepatic Disorder
Hepatic Disease	Disease Of Bilirubin Metabolism
Disorder Of Bilirubin Metabolism	Liver Decompensation
Liver Function Failure	Hepatic Failure Nos
Liver Failure Nos	End Stage Liver Disease
Decompensated Liver Failure	Decompensation Of Liver Function
Hepatic Decompensation	Hepatic Insufficiency
Liver Cell Necrosis With Hepatic Failure	Liver Insufficiency
Decompensated Liver Disease	End Stage Liver Failure
Liver Necrosis With Hepatic Failure

Mitochondrial Dna Depletion Syndrome 3

Deoxyguanosine Kinase Deficiency	Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
MTDPS3	Dguok Deficiency
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form	Dguok-Related Mitochondrial Dna Depletion Syndrome
Hepatocerebral Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome, Hepatocerebral Form
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency	Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type	Mitochondrial Dna Depletion Syndrome , Type 3

Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis	BRIC1
Summerskill Syndrome	Bric
Summerskill-Walshe-Tygstrup Syndrome	Cholestasis, Benign Recurrent Intrahepatic
Benign Recurrent Intrahepatic Cholestasis 1	Benign Recurrent Intrahepatic Cholestasis Type 1
Bric Type 1	Low Gamma-Gt Familial Intrahepatic Cholestasis
Recurrent Familial Intrahepatic Cholestasis	Cholestasis, Benign Recurrent Intrahepatic 1
Mild Atp8b1 Deficiency	Recurrent Familial Intrahepatic Cholestasis 1
Abcb11-Related Intrahepatic Cholestasis	Atp8b1-Related Intrahepatic Cholestasis
Cholestasis, Intrahepatic, Recurrent, Benign, Type 1	Progressive Intrahepatic Cholestasis
Cholestasis, Progressive Familial Intrahepatic 3	Bric - [Benign Recurrent Intrahepatic Cholestasis]

Citrullinemia, Type Ii, Adult-Onset

Citrin Deficiency	CTLN2
Citrullinemia Type Ii	Adult-Onset Citrullinemia Type 2
Adult-Onset Type Ii Citrullinemia	Citrullinemia, Adult-Onset Type Ii
Adult-Onset Citrin Deficiency	Adult-Onset Citrullinemia Type Ii
Citrullinemia Type 2	Citrullinemia 2
Citrullinemia, Type Ii

Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic
Pfic	Byler Disease
Abcb11-Related Intrahepatic Cholestasis	Atp8b1-Related Intrahepatic Cholestasis
Bsep Deficiency	Byler Disease
Byler Syndrome	Fic1 Deficiency
Low Γ-Gt Familial Intrahepatic Cholestasis	Mdr3 Deficiency
Pfic	Cholestasis, Intrahepatic, Familial, Progressive
Pfic - [Progressive Familial Intrahepatic Cholestasis]

Cholestasis, Progressive Familial Intrahepatic, 1

PFIC1	Byler Disease
Cholestasis, Progressive Familial Intrahepatic 1	Progressive Familial Intrahepatic Cholestasis 1
Progressive Familial Intrahepatic Cholestasis Type 1	Fic1 Deficiency
Byler'S Disease	Cholestasis, Fatal Intrahepatic
Progressive Familial Intrahepatic Cholestasis	Severe Atp8b1 Deficiency
Fatal Intrahepatic Cholestasis	Cholestasis, Intrahepatic, Familial, Progressive, Type 1
Progressive Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic 3

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N8549A	5-Dihydrocortisone		≥99.0%	Unkown
HY-RS00538	AKR1D1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	AKR1D1	RGD	RGD:620752
Mus musculus	AKR1D1	MGD	MGI:2384785
Macaca mulatta	AKR1D1	VGNC	VGNC:69775
Felis catus	AKR1D1	VGNC	VGNC:59725
Bos taurus	AKR1D1	VGNC	VGNC:25796

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