2. Gene
  3. AKR1D1 - aldo-keto reductase family 1 member D1 Gene

AKR1D1 - aldo-keto reductase family 1 member D1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

AKR1D1 Protein Structure

Aldo_ket_red

Aldo_ket_red: Aldo/keto reductase family (21 - 303)

  • 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 / 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