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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 8 in total

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GO Term	Evidence Code	PMID
bile acid biosynthetic process	TAS
bile acid biosynthetic process	IDA	7508385
cholesterol catabolic process	IDA	7508385
digestion	IDA	7508385
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 **all 3** entries
GO Term	Evidence Code	PMID
cytosol	TAS
cytosol	IDA	7508385
cytosol	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

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GO Term	Evidence Code	PMID
alditol:NADP+ 1-oxidoreductase activity	IBA
aldo-keto reductase (NADP) activity	TAS
steroid binding	TAS	7508385
protein binding	IPI	28514442 33961781
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]

protein binding

lipid binding [inference]

steroid binding

organic cyclic compound binding [inference]

steroid binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

aldo-keto

Functional Category

C: Energy production and conversion
E: Amino acid transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism

Displaying **all 2** entries
Gene Ontology
alditol
oxidoreductase activity

Displaying **all 4** entries
InterPro
Aldo-keto reductase
Aldo/keto reductase, conserved site
NADP-dependent oxidoreductase domain superfamily
NADP-dependent oxidoreductase domain

KEGG BRITE Database

Orthology

K00251

Name

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

References

Rhea

RHEA:14037

4,5β-dihydrocortisone + NADP⁺

H⁺ + cortisone + NADPH

Enzyme

1.3.1.3

PMID

RHEA:46636

5β-dihydrotestosterone + NADP⁺

H⁺ + testosterone + NADPH

Enzyme

1.3.1.3

PMID

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

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0111069	congenital bile acid synthesis defect 2	Alliance of Genome Resources

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	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	854287	Xenbase:XB-GENE-947167
Drosophila melanogaster	856504	FB:FBgn0086254
Oryctolagus cuniculus	100008612		RABIT11348
Monodelphis domestica	100022753		MONDO35010
Ornithorhynchus anatinus	100076664		ORNAN02621
Taeniopygia guttata	100228769		TAEGU09336
Salmo salar	100286547		SALSA10165
Oryctolagus cuniculus	100343388		RABIT11348
Callithrix jacchus	100409275		CALJA43790
Pongo abelii	100456267		PONAB32733

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements