Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 6718
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol AKR1D1   Gene   UCSC   Ensembl
Aliases 3o5bred, CBAS2, SRD5B1
Gene name aldo-keto reductase family 1 member D1
Alternate names 3-oxo-5-beta-steroid 4-dehydrogenase, 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),
Gene location 7q33 (138076431: 138118303)     Exons: 9     NC_000007.14
Gene summary(Entrez) 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]
OMIM 604741

Protein Summary
Protein general information P51857  

Name: 3 oxo 5 beta steroid 4 dehydrogenase (EC 1.3.1.3) (Aldo keto reductase family 1 member D1) (Delta(4) 3 ketosteroid 5 beta reductase) (Delta(4) 3 oxosteroid 5 beta reductase)

Length: 326  Mass: 37,377

Tissue specificity: Highly expressed in liver. Expressed in testis and weakly in colon. {ECO

Sequence MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEG
KVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCAT
WEAMEACKDAGLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTS
RNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIE
ALNKNVRFVELLMWRDHPEYPFHDEY
Structural information
Interpro:  IPR018170 IPR020471 IPR023210
Prosite:   PS00798 PS00062 PS00063

Pfam:  		 PF00248
CDD:   cd06660

PDB:  		 3BUR 3BUV 3BV7 3CAQ 3CAS 3CAV 3CMF 3COT 3DOP 3G1R 3UZW 3UZX 3UZY 3UZZ
PDBsum:   3BUR 3BUV 3BV7 3CAQ 3CAS 3CAV 3CMF 3COT 3DOP 3G1R 3UZW 3UZX 3UZY 3UZZ
STRING:   ENSP00000242375;
Other Databases GeneCards:  AKR1D1;  Malacards:  AKR1D1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0005496 steroid binding
 TAS molecular_function
GO:0005829 cytosol
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006699 bile acid biosynthetic pr
ocess
 IDA biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 IDA biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 TAS biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 TAS biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 TAS biological_process
GO:0006707 cholesterol catabolic pro
cess
 IDA biological_process
GO:0007586 digestion
 IDA biological_process
GO:0008207 C21-steroid hormone metab
olic process
 IDA biological_process
GO:0008209 androgen metabolic proces
s
 IDA biological_process
GO:0030573 bile acid catabolic proce
ss
 IEA biological_process
GO:0047787 delta4-3-oxosteroid 5beta
-reductase activity
 IEA molecular_function
GO:0055114 oxidation-reduction proce
ss
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0005496 steroid binding
 TAS molecular_function
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005829 cytosol
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006629 lipid metabolic process
 IEA biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 IDA biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 IDA biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 TAS biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 TAS biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 TAS biological_process
GO:0006707 cholesterol catabolic pro
cess
 IDA biological_process
GO:0007586 digestion
 IDA biological_process
GO:0008202 steroid metabolic process
 IEA biological_process
GO:0008207 C21-steroid hormone metab
olic process
 IDA biological_process
GO:0008209 androgen metabolic proces
s
 IDA biological_process
GO:0016042 lipid catabolic process
 IEA biological_process
GO:0016491 oxidoreductase activity
 IEA molecular_function
GO:0016491 oxidoreductase activity
 IEA molecular_function
GO:0030573 bile acid catabolic proce
ss
 IEA biological_process
GO:0047787 delta4-3-oxosteroid 5beta
-reductase activity
 IEA molecular_function
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0055114 oxidation-reduction proce
ss
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
 TAS molecular_function
GO:0005496 steroid binding
 TAS molecular_function
GO:0005829 cytosol
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006699 bile acid biosynthetic pr
ocess
 IDA biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 IDA biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 TAS biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 TAS biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 TAS biological_process
GO:0006707 cholesterol catabolic pro
cess
 IDA biological_process
GO:0007586 digestion
 IDA biological_process
GO:0008207 C21-steroid hormone metab
olic process
 IDA biological_process
GO:0008209 androgen metabolic proces
s
 IDA biological_process
GO:0055114 oxidation-reduction proce
ss
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component

KEGG pathways

hsa01100  Metabolic pathways
hsa00140  Steroid hormone biosynthesis
hsa00120  Primary bile acid biosynthesis

Diseases

Associated diseases References
Endometriosis (ovarian) PMID: 21232532
Congenital bile acid synthesis defect KEGG: H00628, OMIM: 604741
Ovarian endometriosis PMID: 21232532
Ovarian endometriosis PMID: 21232532
Ovarian endometriosis INFBASE21232532

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21232532 Endometrio
sis (ovari
an)

PR-AB
HSD17B2
SRD5A2
AKR1C1
AKR1C2
AKR1C3
AKR1D1
 Show abstract