AKR1D1 - aldo-keto reductase family 1 member D1 Gene

Also Known as CBAS2; SRD5B1; 3o5bred

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6718

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	Referencias	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Referencias	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	Referencias	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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Phase
HY-156701	BAY-1128688		/	Phase 2

Pre-clinical Phase

Bioactive Molecules (5)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-113114	Tetrahydrocortisone	Substrate	99.97%	Unkown
HY-N8549A	5-Dihydrocortisone		99.83%	Unkown
HY-RS00538	AKR1D1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18415	Akr1d1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24896	Akr1d1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	AKR1D1	NCBI