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aldo-keto reductase family 1 member D1

Summary

Gene Symbol

AKR1D1

Aliases

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

Organism

Homo sapiens (human)

External Links

NCBI Gene

6718

HGNC

388

KEGG Gene ID

hsa:6718

PubChem

6718

Alliance of Genome Resources

HGNC:388

Annotation

Keyword

3D-structure
Alternative splicing
Bile acid catabolism
Cytoplasm
Disease variant
Intrahepatic cholestasis
NADP
Oxidoreductase
Reference proteome

Proteins

Displaying 1 entry
UniProt	Protein Name
P51857	3-oxo-5-beta-steroid 4-dehydrogenase Delta(4)-3-ketosteroid 5-beta-reductase Delta(4)-3-oxosteroid 5-beta-reductase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entry **6 - 6** of 6 in total

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GO Term	Evidence Code	PMID
C21-steroid hormone metabolic process	IDA	7508385

GO Hierarchy

biological process

metabolic process [inference]

catabolic process [inference]

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

alcohol catabolic process [inference]

cholesterol catabolic process

organic substance catabolic process [inference]

lipid catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

organic cyclic compound catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

organic hydroxy compound catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

alcohol catabolic process [inference]

cholesterol catabolic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

hormone metabolic process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

bile acid metabolic process [inference]

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol catabolic process

sterol catabolic process [inference]

cholesterol catabolic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

lipid catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

alcohol catabolic process [inference]

cholesterol catabolic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol catabolic process

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

alcohol catabolic process [inference]

cholesterol catabolic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

bile acid metabolic process [inference]

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol catabolic process

sterol catabolic process [inference]

cholesterol catabolic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

lipid catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

bile acid metabolic process [inference]

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol catabolic process

sterol catabolic process [inference]

cholesterol catabolic process

organic cyclic compound catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic substance catabolic process [inference]

lipid catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

organic cyclic compound catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

organic hydroxy compound catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

alcohol catabolic process [inference]

cholesterol catabolic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

alcohol catabolic process [inference]

cholesterol catabolic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol catabolic process

bile acid metabolic process [inference]

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol catabolic process

sterol catabolic process [inference]

cholesterol catabolic process

organic hydroxy compound catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

alcohol catabolic process [inference]

cholesterol catabolic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

cellular process [inference]

C21-steroid hormone metabolic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

bile acid catabolic process

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

multicellular organismal process [inference]

digestion

biological regulation [inference]

regulation of biological quality [inference]

regulation of hormone levels [inference]

hormone metabolic process [inference]

Displaying 1 entry
GO Term	Evidence Code	PMID
cytosol	IBA IDA TAS	7508385

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

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GO Term	Evidence Code	PMID
steroid dehydrogenase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

monooxygenase activity [inference]

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen [inference]

ketosteroid monooxygenase activity

steroid dehydrogenase activity

oxidoreductase activity, acting on CH-OH group of donors [inference]

oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

aldo-keto reductase (NADP) activity

alcohol dehydrogenase (NADP+) activity [inference]

alditol:NADP+ 1-oxidoreductase activity

oxidoreductase activity, acting on the CH-CH group of donors [inference]

oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor [inference]

enone reductase activity [inference]

delta4-3-oxosteroid 5beta-reductase activity

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [inference]

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen [inference]

ketosteroid monooxygenase activity

binding [inference]

lipid binding [inference]

steroid binding

organic cyclic compound binding [inference]

steroid binding

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K00251

Name

3-oxo-5-beta-steroid 4-dehydrogenase [EC:1.3.1.3]

References

Rhea

5β-cholestan-3-one + NADP⁺

H⁺ + cholest-4-en-3-one + NADPH

Enzyme

1.3.1.3

PMID

a 3-oxo-5β-steroid + NADP⁺

H⁺ + a 3-oxo-Δ⁴-steroid + NADPH

Enzyme

1.3.1.3

PMID

5β-dihydrotestosterone + NADP⁺

H⁺ + testosterone + NADPH

Enzyme

1.3.1.3

PMID

4,5β-dihydrocortisone + NADP⁺

H⁺ + cortisone + NADPH

Enzyme

1.3.1.3

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0014667	disease of metabolism	DisGeNET
DOID:0050674	congenital bile acid synthesis defect	DisGeNET
DOID:0060262	gallbladder disease	DisGeNET
DOID:0111029	hemochromatosis type 1	DisGeNET
DOID:0111069	congenital bile acid synthesis defect 2	DisGeNET Alliance of Genome Resources
DOID:10607	tropical sprue	DisGeNET
DOID:11476	osteoporosis	DisGeNET
DOID:11847	coronary thrombosis	DisGeNET
DOID:1247	blood coagulation disease	DisGeNET
DOID:12549	hepatitis A	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0002014	Diarrhea
HP:0002240	Hepatomegaly
HP:0002570	Steatorrhea
HP:0002630	Fat malabsorption
HP:0002748	Rickets
HP:0002904	Hyperbilirubinemia
HP:0002908	Conjugated hyperbilirubinemia
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0003256	Abnormality of the coagulation cascade

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:79303	congenital bile acid synthesis defect 2
OMIM:235555	congenital bile acid synthesis defect 2

PubChem Disease

GHR Health Conditions

Congenital bile acid synthesis defect type 2

MedGen Diseases

Congenital bile acid synthesis defect 2

OMIM Phenotypes

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2

KEGG Diseases

Congenital bile acid synthesis defect

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP001665
Gene Name: aldo-keto reductase family 1, member D1

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	175047	WB:WBGene00012722
Drosophila melanogaster	39304	FB:FBgn0086254
Drosophila melanogaster	39305	FB:FBgn0036183
Latimeria chalumnae	102361835		LATCH04797
Astyanax mexicanus	103027718		ASTMX15787
Astyanax mexicanus	103036813		ASTMX18644
Ictalurus punctatus	100528314		ICTPU12579
Electrophorus electricus	113573542		ELEEL13114
Esox lucius	105018484		ESOLU58011
Salmo salar	100286547		SALSA10165

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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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GlyCosmos Portal v4.0.0

Last updated: August 19, 2024