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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

Displaying entries **1 - 10** of 29 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000107	Renal cyst
HP:0000952	Jaundice
HP:0001396	Cholestasis
HP:0001397	Hepatic steatosis
HP:0001399	Hepatic failure
HP:0001406	Intrahepatic cholestasis
HP:0001508	Failure to thrive
HP:0001744	Splenomegaly
HP:0001978	Extramedullary hematopoiesis

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

Displaying entries **31 - 40** of **115** in total

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Species	Gene ID	Orthologous MAtrix
Ailuropoda melanoleuca	100483237	AILME17877
Sus scrofa	100520813	PIGXX12481
Ictalurus punctatus	100528314	ICTPU12579
Meleagris gallopavo	100547967	MELGA00661
Anolis carolinensis	100555605	ANOCA06812
Nomascus leucogenys	100596284	NOMLE07676
Loxodonta africana	100665738	LOXAF04021
Oreochromis niloticus	100710661	ORENI69919
Cavia porcellus	100713034	CAVPO06907
Cricetulus griseus	100770348	CRIGR11064

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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