Details for: AKR1D1

Gene ID: 6718

Symbol: AKR1D1

Ensembl ID: ENSG00000122787

Description: aldo-keto reductase family 1 member D1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 12.8580
    Cell Significance Index: -2.0000
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 10.4618
    Cell Significance Index: 175.9600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 7.8457
    Cell Significance Index: -1.9900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.4375
    Cell Significance Index: 34.8200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.0436
    Cell Significance Index: 17.5800
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 0.8226
    Cell Significance Index: 2.1700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7905
    Cell Significance Index: 156.8800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.5462
    Cell Significance Index: 9.3600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.4254
    Cell Significance Index: 10.6100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.3198
    Cell Significance Index: 4.7200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.2605
    Cell Significance Index: 8.2400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1280
    Cell Significance Index: 8.0700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1183
    Cell Significance Index: 2.5900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.1034
    Cell Significance Index: 1.0700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0396
    Cell Significance Index: 1.0600
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.0208
    Cell Significance Index: 0.1200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0138
    Cell Significance Index: 2.0000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0108
    Cell Significance Index: 2.1600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0105
    Cell Significance Index: 3.0300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0077
    Cell Significance Index: 0.1100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0072
    Cell Significance Index: 2.5900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0063
    Cell Significance Index: 0.1300
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.0024
    Cell Significance Index: 0.0300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0024
    Cell Significance Index: 3.6300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0021
    Cell Significance Index: 3.9000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0014
    Cell Significance Index: 2.6200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0008
    Cell Significance Index: 0.1500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0004
    Cell Significance Index: 0.5300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0001
    Cell Significance Index: 0.0500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0012
    Cell Significance Index: -0.2100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0019
    Cell Significance Index: -0.8400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0026
    Cell Significance Index: -1.9400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0028
    Cell Significance Index: -2.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0032
    Cell Significance Index: -1.8300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0034
    Cell Significance Index: -2.1300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0035
    Cell Significance Index: -1.9100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0044
    Cell Significance Index: -0.0900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0064
    Cell Significance Index: -0.6500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0094
    Cell Significance Index: -1.9900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0125
    Cell Significance Index: -0.7700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0128
    Cell Significance Index: -1.4700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0137
    Cell Significance Index: -1.6000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0141
    Cell Significance Index: -0.9500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0146
    Cell Significance Index: -2.0100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0150
    Cell Significance Index: -1.9400
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0178
    Cell Significance Index: -0.2500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0181
    Cell Significance Index: -1.8800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0182
    Cell Significance Index: -1.4000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0191
    Cell Significance Index: -0.5100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0201
    Cell Significance Index: -0.8900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0244
    Cell Significance Index: -1.8200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0254
    Cell Significance Index: -1.3200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0283
    Cell Significance Index: -1.5900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0285
    Cell Significance Index: -1.0800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0353
    Cell Significance Index: -1.6600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0356
    Cell Significance Index: -1.6600
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0396
    Cell Significance Index: -0.9900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0399
    Cell Significance Index: -1.8100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0409
    Cell Significance Index: -2.1300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0443
    Cell Significance Index: -1.4500
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0447
    Cell Significance Index: -0.5700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0451
    Cell Significance Index: -0.6600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0452
    Cell Significance Index: -1.4400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0454
    Cell Significance Index: -1.5900
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0469
    Cell Significance Index: -0.6500
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: -0.0484
    Cell Significance Index: -0.4600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0497
    Cell Significance Index: -1.3900
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0512
    Cell Significance Index: -0.5300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0521
    Cell Significance Index: -1.8300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0533
    Cell Significance Index: -1.5200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0558
    Cell Significance Index: -1.1200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0571
    Cell Significance Index: -1.3700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0576
    Cell Significance Index: -1.4800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0594
    Cell Significance Index: -1.7500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0601
    Cell Significance Index: -0.5700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0601
    Cell Significance Index: -1.5000
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0607
    Cell Significance Index: -1.0000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0610
    Cell Significance Index: -0.9000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0634
    Cell Significance Index: -1.3700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0637
    Cell Significance Index: -2.3400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0639
    Cell Significance Index: -1.7400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0645
    Cell Significance Index: -1.3700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0658
    Cell Significance Index: -1.9000
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0681
    Cell Significance Index: -0.8900
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: -0.0690
    Cell Significance Index: -0.7000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0707
    Cell Significance Index: -1.8900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0712
    Cell Significance Index: -2.0400
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0742
    Cell Significance Index: -1.0000
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0753
    Cell Significance Index: -0.9800
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0769
    Cell Significance Index: -1.9600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0776
    Cell Significance Index: -2.0400
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0780
    Cell Significance Index: -1.5400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0783
    Cell Significance Index: -1.9100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0784
    Cell Significance Index: -1.5500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0795
    Cell Significance Index: -1.6600
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: -0.0808
    Cell Significance Index: -0.8200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0841
    Cell Significance Index: -1.7600
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0865
    Cell Significance Index: -1.7600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0866
    Cell Significance Index: -1.0100
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0868
    Cell Significance Index: -1.1900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** AKR1D1 is a type of aldo-keto reductase (AKR) enzyme, which is a family of enzymes that catalyze the reduction of aldehydes and ketones to their corresponding alcohols. AKR1D1 is specifically involved in the metabolism of androgens, such as testosterone and dihydrotestosterone, which are essential for male reproductive and sexual health. Additionally, AKR1D1 plays a role in the synthesis of bile acids, which are crucial for the digestion and absorption of lipids. **Pathways and Functions:** AKR1D1 is involved in several metabolic pathways, including: 1. **Androgen metabolic process:** AKR1D1 reduces androgens to their corresponding alcohols, which are then further metabolized by other enzymes. 2. **Bile acid and bile salt metabolism:** AKR1D1 is involved in the synthesis of bile acids, which are essential for the digestion and absorption of lipids. 3. **C21-steroid hormone metabolic process:** AKR1D1 plays a role in the metabolism of C21-steroid hormones, such as cortisol and aldosterone. 4. **Cholesterol catabolic process:** AKR1D1 is involved in the breakdown of cholesterol, which is an essential step in the synthesis of bile acids. **Clinical Significance:** Dysregulation of AKR1D1 has been implicated in various diseases, including: 1. **Hypogonadism:** AKR1D1 plays a crucial role in the metabolism of androgens, and dysregulation of this enzyme has been linked to hypogonadism, a condition characterized by low levels of testosterone. 2. **Bile acid disorders:** AKR1D1 is involved in the synthesis of bile acids, and dysregulation of this enzyme has been linked to bile acid disorders, such as primary biliary cholangitis. 3. **Cardiovascular disease:** AKR1D1 has been implicated in the development of cardiovascular disease, as dysregulation of this enzyme can lead to changes in lipid metabolism and increased risk of cardiovascular events. **Conclusion:** AKR1D1 is an enzyme that plays a crucial role in the metabolism of androgens and the synthesis of bile acids. Its dysregulation has been implicated in various diseases, including hypogonadism, bile acid disorders, and cardiovascular disease. Further research is needed to fully understand the mechanisms by which AKR1D1 regulates androgen metabolism and bile acid synthesis, and to explore potential therapeutic strategies for the treatment of these diseases.

Genular Protein ID: 1904780796

Symbol: AK1D1_HUMAN

Name: Aldo-keto reductase family 1 member D1

UniProtKB Accession Codes:

P51857 A1L4P6 A8K060 B4DPN3 B4DPN8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEBI 81 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 7 EC 3 EMBL 20 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 14 PDBsum 14 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 3 RefSeq 3 Rhea 28 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7508385

Title: Cloning and expression of cDNA of human delta 4-3-oxosteroid 5 beta-reductase and substrate specificity of the expressed enzyme.

PubMed ID: 7508385

DOI: 10.1111/j.1432-1033.1994.tb19947.x

PubMed ID: 11342103

Title: Genomic organization of a human 5beta-reductase and its pseudogene and substrate selectivity of the expressed enzyme.

PubMed ID: 11342103

DOI: 10.1016/s0167-4781(00)00278-5

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 20522910

Title: Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.

PubMed ID: 20522910

DOI: 10.1074/jbc.m110.127779

PubMed ID: 21255593

Title: Substrate specificity and inhibitor analyses of human steroid 5beta-reductase (AKR1D1).

PubMed ID: 21255593

DOI: 10.1016/j.steroids.2011.01.003

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 18624455

Title: The crystal structure of human Delta4-3-ketosteroid 5beta-reductase defines the functional role of the residues of the catalytic tetrad in the steroid double bond reduction mechanism.

PubMed ID: 18624455

DOI: 10.1021/bi800572s

PubMed ID: 19075558

Title: Crystal structures of human Delta4-3-ketosteroid 5beta-reductase (AKR1D1) reveal the presence of an alternative binding site responsible for substrate inhibition.

PubMed ID: 19075558

DOI: 10.1021/bi801276h

PubMed ID: 18407998

Title: Crystal structure of human liver delta(4)-3-ketosteroid 5beta-reductase (AKR1D1) and implications for substrate binding and catalysis.

PubMed ID: 18407998

DOI: 10.1074/jbc.m801778200

PubMed ID: 19515843

Title: Inhibition of human steroid 5beta-reductase (AKR1D1) by finasteride and structure of the enzyme-inhibitor complex.

PubMed ID: 19515843

DOI: 10.1074/jbc.c109.016931

PubMed ID: 18848863

Title: Structure and catalytic mechanism of human steroid 5beta-reductase (AKR1D1).

PubMed ID: 18848863

DOI: 10.1016/j.mce.2008.09.013

PubMed ID: 22437839

Title: Conversion of human steroid 5beta-reductase (AKR1D1) into 3beta-hydroxysteroid dehydrogenase by single point mutation E120H: example of perfect enzyme engineering.

PubMed ID: 22437839

DOI: 10.1074/jbc.m111.338780

PubMed ID: 12970144

Title: Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

PubMed ID: 12970144

DOI: 10.1136/gut.52.10.1494

PubMed ID: 15030995

Title: SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect.

PubMed ID: 15030995

DOI: 10.1016/j.jhep.2003.12.024

PubMed ID: 19175828

Title: SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency.

PubMed ID: 19175828

DOI: 10.1111/j.1440-1746.2008.05669.x

Sequence Information:

  • Length: 326
  • Mass: 37377
  • Checksum: 1FE02B95398A0A6F
  • Sequence:
    • MDLSAASHRI PLSDGNSIPI IGLGTYSEPK STPKGACATS VKVAIDTGYR HIDGAYIYQN 
EHEVGEAIRE KIAEGKVRRE DIFYCGKLWA TNHVPEMVRP TLERTLRVLQ LDYVDLYIIE 
VPMAFKPGDE IYPRDENGKW LYHKSNLCAT WEAMEACKDA GLVKSLGVSN FNRRQLELIL 
NKPGLKHKPV SNQVECHPYF TQPKLLKFCQ QHDIVITAYS PLGTSRNPIW VNVSSPPLLK 
DALLNSLGKR YNKTAAQIVL RFNIQRGVVV IPKSFNLERI KENFQIFDFS LTEEEMKDIE 
ALNKNVRFVE LLMWRDHPEY PFHDEY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.