Gene/Proteome Database (LMPD)

LMPD ID
LMP001665
Gene ID
6718
Species
Homo sapiens (Human)
Gene Name
aldo-keto reductase family 1, member D1
Gene Symbol
AKR1D1
Synonyms
3o5bred; CBAS2; SRD5B1
Alternate Names
3-oxo-5-beta-steroid 4-dehydrogenase; delta 4-3-ketosteroid-5-beta-reductase; delta(4)-3-oxosteroid 5-beta-reductase; delta(4)-3-ketosteroid 5-beta-reductase; steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1)
Chromosome
7
Map Location
7q32-q33
EC Number
1.3.1.3
Summary
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]
Orthologs
View orthologs and multiple alignments for AKR1D1

Proteins

3-oxo-5-beta-steroid 4-dehydrogenase isoform 1
Refseq ID NP_005980
Protein GI 5174695
UniProt ID P51857
mRNA ID NM_005989
Length 326
RefSeq Status REVIEWED
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDAGLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIEALNKNVRFVELLMWRDHPEYPFHDEY
3-oxo-5-beta-steroid 4-dehydrogenase isoform 2
Refseq ID NP_001177835
Protein GI 300116271
UniProt ID P51857
mRNA ID NM_001190906
Length 285
RefSeq Status REVIEWED
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIEALNKNVRFVELLMWRDHPEYPFHDEY
3-oxo-5-beta-steroid 4-dehydrogenase isoform 3
Refseq ID NP_001177836
Protein GI 300116273
UniProt ID P51857
mRNA ID NM_001190907
Length 290
RefSeq Status REVIEWED
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDAGLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQVARSS

Gene Information

Entrez Gene ID
6718
Gene Name
aldo-keto reductase family 1, member D1
Gene Symbol
AKR1D1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005829 IDA:UniProtKB C cytosol
GO:0070062 IDA:UniProt C extracellular vesicular exosome
GO:0047787 IEA:UniProtKB-EC F delta4-3-oxosteroid 5beta-reductase activity
GO:0005496 TAS:UniProtKB F steroid binding
GO:0008209 IDA:UniProtKB P androgen metabolic process
GO:0006699 IDA:UniProtKB P bile acid biosynthetic process
GO:0030573 IEA:UniProtKB-KW P bile acid catabolic process
GO:0008206 TAS:Reactome P bile acid metabolic process
GO:0008207 IDA:UniProtKB P C21-steroid hormone metabolic process
GO:0006707 IDA:UniProtKB P cholesterol catabolic process
GO:0007586 IDA:UniProtKB P digestion
GO:0055114 IDA:UniProtKB P oxidation-reduction process
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00120 Primary bile acid biosynthesis
hsa00140 Steroid hormone biosynthesis

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY-6061 bile acid biosynthesis, neutral pathway

Domain Information

InterPro Annotations

Accession Description
IPR001395 Aldo/keto reductase
IPR018170 Aldo/keto reductase, conserved site
IPR020471 Aldo/keto reductase subgroup
IPR023210 NADP-dependent oxidoreductase domain

UniProt Annotations

Entry Information

Gene Name
aldo-keto reductase family 1, member D1
Protein Entry
AK1D1_HUMAN
UniProt ID
P51857
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P51857-1; Sequence=Displayed; Name=2; IsoId=P51857-2; Sequence=VSP_042901; Note=No experimental confirmation available.; Name=3; IsoId=P51857-3; Sequence=VSP_042913; Note=No experimental confirmation available.;
Biophysicochemical Properties Kinetic parameters: KM=2.7 uM for testosterone ;
Catalytic Activity 17,21-dihydroxy-5-beta-pregnane-3,11,20-trione + NADP(+) = cortisone.
Catalytic Activity 5-beta-cholestan-3-one + NADP(+) = cholest-4- en-3-one + NADPH.
Disease Congenital bile acid synthesis defect 2 (CBAS2) [MIM
Enzyme Regulation Subject to inhibition by high substrate concentrations. Inhibited by testosterone concentrations above 10 uM.
Function Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7- alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4- cholesten-3-one can also act as substrates.
Similarity Belongs to the aldo/keto reductase family.
Subcellular Location Cytoplasm.
Tissue Specificity Highly expressed in liver. Expressed in testis and weakly in colon.

Identical and Related Proteins

Unique RefSeq proteins for LMP001665 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
5174695 RefSeq NP_005980 326 3-oxo-5-beta-steroid 4-dehydrogenase isoform 1
300116271 RefSeq NP_001177835 285 3-oxo-5-beta-steroid 4-dehydrogenase isoform 2
300116273 RefSeq NP_001177836 290 3-oxo-5-beta-steroid 4-dehydrogenase isoform 3

Identical Sequences to LMP001665 proteins

Reference Database Accession Length Protein Name
GI:300116273 DBBJ BAG60645.1 290 unnamed protein product [Homo sapiens]
GI:300116271 DBBJ BAG60650.1 285 unnamed protein product [Homo sapiens]
GI:5174695 GenBank ACM81181.1 326 Sequence 6679 from patent US 6812339
GI:5174695 GenBank ADR83138.1 326 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase), partial [synthetic construct]
GI:5174695 GenBank AHD80341.1 326 Sequence 32329 from patent US 8586006
GI:5174695 GenBank AIC49783.1 326 AKR1D1, partial [synthetic construct]
GI:5174695 RefSeq XP_003813471.1 326 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase isoform X1 [Pan paniscus]
GI:5174695 RefSeq XP_008964230.1 326 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase isoform X1 [Pan paniscus]

Related Sequences to LMP001665 proteins

Reference Database Accession Length Protein Name
GI:5174695 DBBJ BAF82114.1 326 unnamed protein product [Homo sapiens]
GI:5174695 GenBank ACM85958.1 347 Sequence 11456 from patent US 6812339
GI:300116273 GenBank ADR83138.1 326 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase), partial [synthetic construct]
GI:300116271 GenBank ADR83138.1 326 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase), partial [synthetic construct]
GI:300116271 GenBank AIC49783.1 326 AKR1D1, partial [synthetic construct]
GI:300116273 GenBank AIC49783.1 326 AKR1D1, partial [synthetic construct]
GI:5174695 RefSeq XP_002818550.1 326 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase isoform X1 [Pongo abelii]
GI:300116271 RefSeq XP_002818551.1 285 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase isoform X3 [Pongo abelii]
GI:300116271 RefSeq XP_003261441.1 285 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase isoform 3 [Nomascus leucogenys]
GI:300116273 RefSeq XP_003777187.1 290 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase isoform X2 [Pongo abelii]
GI:5174695 RefSeq XP_004046334.1 326 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase-like isoform 1 [Gorilla gorilla gorilla]
GI:300116273 RefSeq XP_004046335.1 290 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase-like isoform 2 [Gorilla gorilla gorilla]
GI:300116271 RefSeq XP_004046336.1 285 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase-like isoform 3 [Gorilla gorilla gorilla]
GI:300116273 RefSeq XP_004090286.1 290 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase [Nomascus leucogenys]
GI:300116273 RefSeq XP_005550939.1 290 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase isoform X2 [Macaca fascicularis]
GI:300116271 RefSeq XP_005550940.1 285 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase isoform X3 [Macaca fascicularis]
GI:5174695 RefSeq XP_010354616.1 326 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase [Rhinopithecus roxellana]
GI:5174695 RefSeq XP_010354617.1 326 PREDICTED: 3-oxo-5-beta-steroid 4-dehydrogenase [Rhinopithecus roxellana]