Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AKR1D1 Gene

Aliases for AKR1D1 Gene

  • Aldo-Keto Reductase Family 1, Member D1 2 3
  • SRD5B1 3 4 6
  • Delta(4)-3-Ketosteroid 5-Beta-Reductase 3 4
  • Delta 4-3-Ketosteroid-5-Beta-Reductase 2 3
  • Delta(4)-3-Oxosteroid 5-Beta-Reductase 3 4
  • CBAS2 3 6
  • Steroid-5-Beta-Reductase, Beta Polypeptide 1 (3-Oxo-5 Beta-Steroid Delta 4-Dehydrogenase Beta 1) 3
  • Aldo-Keto Reductase Family 1, Member D1 (Delta 4-3-Ketosteroid-5-Beta-Reductase) 2
  • Aldo-Keto Reductase Family 1 Member D1 4
  • 3-Oxo-5-Beta-Steroid 4-Dehydrogenase 3
  • EC 1.3.1.3 4
  • 3o5bred 3

External Ids for AKR1D1 Gene

Previous HGNC Symbols for AKR1D1 Gene

  • SRD5B1

Previous GeneCards Identifiers for AKR1D1 Gene

  • GC07P136103
  • GC07P137089
  • GC07P137177
  • GC07P137218
  • GC07P137411
  • GC07P137687
  • GC07P132069

Summaries for AKR1D1 Gene

Entrez Gene Summary for AKR1D1 Gene

  • 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]

GeneCards Summary for AKR1D1 Gene

AKR1D1 (Aldo-Keto Reductase Family 1, Member D1) is a Protein Coding gene. Diseases associated with AKR1D1 include bile acid synthesis defect, congenital, 2 and congenital bile acid synthesis defect. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include steroid binding and delta4-3-oxosteroid 5beta-reductase activity. An important paralog of this gene is AKR1B1.

UniProtKB/Swiss-Prot for AKR1D1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKR1D1 Gene

Genomics for AKR1D1 Gene

Regulatory Elements for AKR1D1 Gene

Genomic Location for AKR1D1 Gene

Start:
138,002,324 bp from pter
End:
138,118,304 bp from pter
Size:
115,981 bases
Orientation:
Plus strand

Genomic View for AKR1D1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AKR1D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKR1D1 Gene

Proteins for AKR1D1 Gene

  • Protein details for AKR1D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51857-AK1D1_HUMAN
    Recommended name:
    3-oxo-5-beta-steroid 4-dehydrogenase
    Protein Accession:
    P51857
    Secondary Accessions:
    • A1L4P6
    • A8K060
    • B4DPN3
    • B4DPN8

    Protein attributes for AKR1D1 Gene

    Size:
    326 amino acids
    Molecular mass:
    37377 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for AKR1D1 Gene

    Alternative splice isoforms for AKR1D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKR1D1 Gene

Proteomics data for AKR1D1 Gene at MOPED

Post-translational modifications for AKR1D1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKR1D1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AKR1D1 Gene

Domains for AKR1D1 Gene

Gene Families for AKR1D1 Gene

HGNC:
  • AKR :Aldo-keto reductases

Protein Domains for AKR1D1 Gene

Graphical View of Domain Structure for InterPro Entry

P51857

UniProtKB/Swiss-Prot:

AK1D1_HUMAN :
  • P51857
Family:
  • Belongs to the aldo/keto reductase family.
genes like me logo Genes that share domains with AKR1D1: view

Function for AKR1D1 Gene

Molecular function for AKR1D1 Gene

GENATLAS Biochemistry: aldo-keto reductase family 1,member D1 (delta 4-3-ketosteroid-5-beta-reductase),expressed in liver,catalyzing the reduction of the delta 4 double bond of bile acid intermediates and steroid hormones with the delta 4-3 one structure in the A/B cis configuration
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=2.7 uM for testosterone {ECO:0000269 PubMed:18407998};
UniProtKB/Swiss-Prot CatalyticActivity: 5-beta-cholestan-3-one + NADP(+) = cholest-4-en-3-one + NADPH.
UniProtKB/Swiss-Prot CatalyticActivity: 17,21-dihydroxy-5-beta-pregnane-3,11,20-trione + NADP(+) = cortisone + NADPH.
UniProtKB/Swiss-Prot EnzymeRegulation: Subject to inhibition by high substrate concentrations. Inhibited by testosterone concentrations above 10 uM.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for AKR1D1 Gene

Gene Ontology (GO) - Molecular Function for AKR1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005496 steroid binding TAS 7508385
GO:0047787 delta4-3-oxosteroid 5beta-reductase activity IEA --
genes like me logo Genes that share ontologies with AKR1D1: view

Phenotypes for AKR1D1 Gene

GenomeRNAi human phenotypes for AKR1D1:
genes like me logo Genes that share phenotypes with AKR1D1: view

miRNA for AKR1D1 Gene

miRTarBase miRNAs that target AKR1D1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for AKR1D1 Gene

Localization for AKR1D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKR1D1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AKR1D1 Gene COMPARTMENTS Subcellular localization image for AKR1D1 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AKR1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with AKR1D1: view

Pathways for AKR1D1 Gene

genes like me logo Genes that share pathways with AKR1D1: view

Interacting Proteins for AKR1D1 Gene

Gene Ontology (GO) - Biological Process for AKR1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process TAS --
GO:0006707 cholesterol catabolic process IDA 7508385
GO:0007586 digestion IDA 7508385
GO:0008206 bile acid metabolic process TAS --
GO:0008207 C21-steroid hormone metabolic process IDA 7508385
genes like me logo Genes that share ontologies with AKR1D1: view

Compounds for AKR1D1 Gene

(24) HMDB Compounds for AKR1D1 Gene

Compound Synonyms Cas Number PubMed IDs
11b,21-Dihydroxy-3,20-oxo-5b-pregnan-18-al
  • Not Available
Not Available
11b,21-Dihydroxy-5b-pregnane-3,20-dione
  • 5beta-Pregnane-11beta,21-diol-3,20-dione
566-01-8
11-Dehydrocorticosterone
  • 11-dehydro-Corticosterone
72-23-1
19-Oxotestosterone
4075-13-2
21-Hydroxy-5b-pregnane-3,11,20-trione
  • 21-Hydroxy-5beta-pregnane-3,11,20-trione
10417-86-4

(4) Drugbank Compounds for AKR1D1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(5BETA)-PREGNANE-3,20-DIONE
target
5-beta-DIHYDROTESTOSTERONE
target
Azelaic Acid
  • Anchoic acid
123-99-9 target inhibitor
Finasteride
  • Finasterida [INN-Spanish]
98319-26-7 target inhibitor

(3) Novoseek inferred chemical compound relationships for AKR1D1 Gene

Compound -log(P) Hits PubMed IDs
11beta-hydroxysteroid 62.4 3
steroid 59.6 8
progesterone 49.6 1
genes like me logo Genes that share compounds with AKR1D1: view

Transcripts for AKR1D1 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for AKR1D1 Gene

No ASD Table

Relevant External Links for AKR1D1 Gene

GeneLoc Exon Structure for
AKR1D1
ECgene alternative splicing isoforms for
AKR1D1

Expression for AKR1D1 Gene

mRNA expression in normal human tissues for AKR1D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AKR1D1 Gene

This gene is overexpressed in Liver (50.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AKR1D1 Gene

SOURCE GeneReport for Unigene cluster for AKR1D1 Gene Hs.201667

mRNA Expression by UniProt/SwissProt for AKR1D1 Gene

P51857-AK1D1_HUMAN
Tissue specificity: Highly expressed in liver. Expressed in testis and weakly in colon.
genes like me logo Genes that share expressions with AKR1D1: view

Orthologs for AKR1D1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AKR1D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKR1D1 35
  • 99.69 (n)
  • 100 (a)
AKR1D1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AKR1D1 35
  • 89.88 (n)
  • 90.8 (a)
AKR1D1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
AKR1D1 35
  • 91.64 (n)
  • 92.2 (a)
mouse
(Mus musculus)
Mammalia Akr1d1 35
  • 83.08 (n)
  • 82.77 (a)
Akr1d1 16
Akr1d1 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AKR1D1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKR1D1 36
  • 35 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Akr1d1 35
  • 82.26 (n)
  • 80 (a)
chicken
(Gallus gallus)
Aves AKR1D1 35
  • 75.46 (n)
  • 81.6 (a)
AKR1D1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKR1D1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akr1d1 35
  • 71.06 (n)
  • 80.67 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10265 35
zebrafish
(Danio rerio)
Actinopterygii zgc:56622 36
  • 39 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG2767 36
  • 33 (a)
ManyToMany
CG6084 37
  • 49 (a)
CG10638 37
  • 42 (a)
BcDNA:GH10614 37
  • 41 (a)
CG9436 37
  • 40 (a)
CG2767 37
  • 35 (a)
CG12766 37
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea ZC443.1 36
  • 36 (a)
ManyToMany
T08H10.1 37
  • 38 (a)
C07D8.6 37
  • 37 (a)
Y39G8B.1b 37
  • 40 (a)
C01G5.5 37
  • 28 (a)
F53F1.2 37
  • 31 (a)
ZC443.1 37
  • 36 (a)
Y39G8B.2 37
  • 32 (a)
K07C5.2 37
  • 31 (a)
F53F1.3 37
  • 32 (a)
Y39G8B.1a 37
  • 42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GRE3 36
  • 39 (a)
OneToMany
GRE3 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
ManyToMany
CSA.5991 36
  • 15 (a)
ManyToMany
Species with no ortholog for AKR1D1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AKR1D1 Gene

ENSEMBL:
Gene Tree for AKR1D1 (if available)
TreeFam:
Gene Tree for AKR1D1 (if available)

Paralogs for AKR1D1 Gene

Paralogs for AKR1D1 Gene

Selected SIMAP similar genes for AKR1D1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for AKR1D1 Gene

genes like me logo Genes that share paralogs with AKR1D1: view

Variants for AKR1D1 Gene

Sequence variations from dbSNP and Humsavar for AKR1D1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs192475 -- 138,105,447(+) AGCTT(C/T)CACTA intron-variant
rs596658 -- 138,105,453(-) ACACC(A/C)TAGTG intron-variant
rs1038626 -- 138,112,731(-) TTAAT(A/T)ATTAA intron-variant
rs1186272 -- 138,100,215(+) aagca(A/G)aaaaa intron-variant
rs1186273 -- 138,100,248(+) gatga(A/G)aaaag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AKR1D1 Gene

Variant ID Type Subtype PubMed ID
esv33947 CNV Gain 17666407
nsv518070 CNV Gain 19592680
nsv831151 CNV Gain+Loss 17160897
esv34048 CNV Loss 18971310
esv2735212 CNV Deletion 23290073
nsv437032 CNV Loss 16327808
esv2735213 CNV Deletion 23290073
esv2527075 CNV Insertion 19546169
esv2658716 CNV Deletion 23128226

Relevant External Links for AKR1D1 Gene

HapMap Linkage Disequilibrium report
AKR1D1
Human Gene Mutation Database (HGMD)
AKR1D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKR1D1 Gene

Disorders for AKR1D1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for AKR1D1 Gene including...

Search for AKR1D1 Gene in MalaCards »

(1) OMIM Diseases for AKR1D1 Gene (604741)

UniProtKB/Swiss-Prot

AK1D1_HUMAN
  • Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]: A condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. {ECO:0000269 PubMed:12970144, ECO:0000269 PubMed:15030995}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AKR1D1

Genetic Association Database (GAD)
AKR1D1
Human Genome Epidemiology (HuGE) Navigator
AKR1D1
genes like me logo Genes that share disorders with AKR1D1: view

Publications for AKR1D1 Gene

  1. Crystal structure of human liver delta(4)-3-ketosteroid 5beta- reductase (AKR1D1) and implications for substrate binding and catalysis. (PMID: 18407998) Di Costanzo L. … Christianson D.W. (J. Biol. Chem. 2008) 3 4 23
  2. Crystal structures of human Delta4-3-ketosteroid 5beta-reductase (AKR1D1) reveal the presence of an alternative binding site responsible for substrate inhibition. (PMID: 19075558) Faucher F. … Breton R. (Biochemistry 2008) 3 4 23
  3. Cloning and expression of cDNA of human delta 4-3-oxosteroid 5 beta- reductase and substrate specificity of the expressed enzyme. (PMID: 7508385) Kondo K.-H. … Bjoerkhem I. (Eur. J. Biochem. 1994) 2 3 4
  4. Inhibition of human steroid 5beta-reductase (AKR1D1) by finasteride and structure of the enzyme-inhibitor complex. (PMID: 19515843) Drury J.E. … Christianson D.W. (J. Biol. Chem. 2009) 4 23 25
  5. Assignment of steroid 5beta-reductase (SRD5B1) and its pseudogene (SRD5BP1) to human chromosome bands 7q32-->q33 and 1q23-->q25, respectively, by in situ hybridization. (PMID: 10343119) Charbonneau A. … Luu-The V. (Cytogenet. Cell Genet. 1999) 2 3

Products for AKR1D1 Gene

Sources for AKR1D1 Gene

Back to Top

Content