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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 entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
bile acid catabolic process	IEA
bile acid biosynthetic process	IDA TAS	7508385
cholesterol catabolic process	IDA	7508385
digestion	IDA	7508385
androgen metabolic process	IBA 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
delta4-3-oxosteroid 5beta-reductase activity	IEA
alditol:NADP+ 1-oxidoreductase activity	IBA
steroid binding		7508385
aldo-keto reductase (NADP) activity
ketosteroid monooxygenase 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

RHEA:11524

5β-cholestan-3-one + NADP⁺

H⁺ + cholest-4-en-3-one + NADPH

Enzyme

1.3.1.3

PMID

RHEA:54412

a 3-oxo-5β-steroid + NADP⁺

H⁺ + a 3-oxo-Δ⁴-steroid + NADPH

Enzyme

1.3.1.3

PMID

RHEA:46636

5β-dihydrotestosterone + NADP⁺

H⁺ + testosterone + NADPH

Enzyme

1.3.1.3

PMID

RHEA:14037

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:13250	diarrhea	DisGeNET
DOID:13515	tuberous sclerosis	DisGeNET
DOID:13580	cholestasis	DisGeNET
DOID:14323	Marfan syndrome	DisGeNET
DOID:1837	diabetic ketoacidosis	DisGeNET
DOID:1852	intrahepatic cholestasis	DisGeNET
DOID:2214	obsolete inherited blood coagulation disease	DisGeNET
DOID:2237	hepatitis	DisGeNET
DOID:2351	iron metabolism disease	DisGeNET
DOID:2352	hemochromatosis	DisGeNET DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0003623	Neonatal onset
HP:0003645	Prolonged partial thromboplastin time
HP:0006579	Prolonged neonatal jaundice
HP:0008151	Prolonged prothrombin time
HP:0008897	Postnatal growth retardation
HP:0011040	Abnormal intrahepatic bile duct morphology
HP:0012379	Abnormal circulating enzyme concentration or activity
HP:0100513	Decreased circulating vitamin E concentration
HP:0200084	Giant cell hepatitis

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	Orthologous MAtrix
Melopsittacus undulatus	101873803	MELUD03366
Monodelphis domestica	100022753	MONDO35010
Pelodiscus sinensis	102453451	PELSI10232
Anolis carolinensis	100555605	ANOCA06812
Cyprinodon variegatus	107094041	CYPVA18664
Cyprinodon variegatus	107094558	CYPVA19255
Ursus maritimus	103669050	URSMA20245
Vombatus ursinus	114028061	VOMUR21422
Bos indicus x Bos taurus	113891162	BOBOX16648
Vicugna pacos	102545225	VICPA09838

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements