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Aliases for AKR1D1 Gene

Aliases for AKR1D1 Gene

  • Aldo-Keto Reductase Family 1 Member D1 2 3 4 5
  • Delta(4)-3-Ketosteroid 5-Beta-Reductase 3 4
  • Delta(4)-3-Oxosteroid 5-Beta-Reductase 3 4
  • SRD5B1 3 4
  • 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
  • Delta 4-3-Ketosteroid-5-Beta-Reductase 2
  • 3-Oxo-5-Beta-Steroid 4-Dehydrogenase 3
  • EC 1.3.1.3 4
  • 3o5bred 3
  • CBAS2 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 Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include steroid binding and delta4-3-oxosteroid 5beta-reductase activity. An important paralog of this gene is AKR1C2.

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.

Additional gene information for AKR1D1 Gene

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

Genomics for AKR1D1 Gene

GeneHancer (GH) Regulatory Elements for AKR1D1 Gene

Promoters and enhancers for AKR1D1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J138076 Promoter 0.9 EPDnew 650.2 +74.2 74152 0.1 SOX13 GATAD2A RXRA SP5 MAX REST RAD21 YY1 SP1 TCF7 AKR1D1 RN7SKP223 ENSG00000231931
GH07J138028 Enhancer 1.2 Ensembl ENCODE dbSUPER 19.8 +27.9 27912 3 HDAC1 ZNF335 ZNF366 POLR3A RCOR1 FOS ATF7 IKZF2 CREM ZNF362 AKR1D1 CREB3L2 LOC100128052 LOC100420648
GH07J137961 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -37.3 -37277 7.6 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B DMAP1 IRF4 SLC30A9 ZNF766 CREB3L2 AKR1D1 TRIM24 LOC100130880 GC07M137981
GH07J137931 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 11.4 -67.3 -67271 6.2 ATF1 FOXA2 IRF4 YY1 ZNF766 FOS JUNB NCOA1 REST ZNF592 AKR1D1 CREB3L2 LOC100130880 GC07M137694
GH07J137939 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.1 -60.1 -60109 5.2 ATF1 FOXA2 ARNT ARID4B ZNF48 ETS1 TCF12 ZNF766 FOS ATF7 CREB3L2 AKR1D1 LOC100130880 GC07M137694
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AKR1D1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AKR1D1 gene promoter:

Genomic Locations for AKR1D1 Gene

Genomic Locations for AKR1D1 Gene
chr7:138,002,324-138,118,304
(GRCh38/hg38)
Size:
115,981 bases
Orientation:
Plus strand
chr7:137,687,070-137,803,050
(GRCh37/hg19)

Genomic View for AKR1D1 Gene

Genes around AKR1D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKR1D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for AKR1D1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKR1D1 Gene

No data available for DME Specific Peptides for AKR1D1 Gene

Domains & Families for AKR1D1 Gene

Gene Families for AKR1D1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P51857

UniProtKB/Swiss-Prot:

AK1D1_HUMAN :
  • Belongs to the aldo/keto reductase family.
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

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.
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 BiophysicochemicalProperties:
Kinetic parameters: KM=2.7 uM for testosterone {ECO:0000269 PubMed:18407998};
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

Enzyme Numbers (IUBMB) for AKR1D1 Gene

Phenotypes From GWAS Catalog for AKR1D1 Gene

Gene Ontology (GO) - Molecular Function for AKR1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004032 alditol:NADP+ 1-oxidoreductase activity IBA --
GO:0004033 aldo-keto reductase (NADP) activity TAS --
GO:0005496 steroid binding TAS 7508385
GO:0008106 alcohol dehydrogenase (NADP+) activity IBA --
GO:0016229 steroid dehydrogenase activity IBA --
genes like me logo Genes that share ontologies with AKR1D1: view
genes like me logo Genes that share phenotypes with AKR1D1: view

Human Phenotype Ontology for AKR1D1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AKR1D1 Gene

MGI Knock Outs for AKR1D1:
  • Akr1d1 Akr1d1<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for AKR1D1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR1D1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for AKR1D1 Gene

Localization for AKR1D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKR1D1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AKR1D1 gene
Compartment Confidence
extracellular 5
cytosol 5
cytoskeleton 2
plasma membrane 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKR1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA --
genes like me logo Genes that share ontologies with AKR1D1: view

Pathways & Interactions for AKR1D1 Gene

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

Gene Ontology (GO) - Biological Process for AKR1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006699 bile acid biosynthetic process TAS,IDA --
GO:0006707 cholesterol catabolic process IDA 7508385
GO:0007586 digestion IDA 7508385
GO:0008202 steroid metabolic process IBA,IEA --
genes like me logo Genes that share ontologies with AKR1D1: view

No data available for SIGNOR curated interactions for AKR1D1 Gene

Drugs & Compounds for AKR1D1 Gene

(14) Drugs for AKR1D1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Azelaic acid Approved Pharma Target, inhibitor 36
Finasteride Approved Pharma inhibitor, Target Inhibitor of Type II 5α-reductase 67
Progesterone Approved, Vet_approved Pharma Full agonist, Activator, Agonist, Inhibition, Pore Blocker Endogenous progesterone receptor agonist 600
cholic acid Approved Pharma Full agonist, Agonist 0
Hydrocortisone Approved, Vet_approved Pharma Agonist 713

(22) Additional Compounds for AKR1D1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11b,21-Dihydroxy-3,20-oxo-5b-pregnan-18-al
  • 11beta,21-Dihydroxy-3,20-oxo-5beta-pregnan-18-al
  • Not available
11b,21-Dihydroxy-5b-pregnane-3,20-dione
  • 11beta,21-Dihydroxy-5beta-pregnane-3,20-dione
  • 5beta-Pregnane-11beta,21-diol-3,20-dione
566-01-8
11-Dehydrocorticosterone
  • 11-dehydro-Corticosterone
  • 11-Dehydrocorticosteron
  • 11-oxo-11-Deoxycorticosterone
  • 11-Oxocorticosterone
  • 17-(1-keto-2-Hydroxyethyl)-D4-androsten-3,11-dione
72-23-1
17a,21-Dihydroxy-5b-pregnane-3,11,20-trione
  • 17alpha,21-Dihydroxy-5beta-pregnane-3,11,20-trione
  • 4,5beta-Dihydrocortisone
  • 5-Dihydrocortisone
  • 5beta-Pregnane-17alpha,21-diol-3,11,20-trione
  • 17α,21-dihydroxy-5β-pregnane-3,11,20-trione
68-54-2
19-Oxotestosterone
4075-13-2
genes like me logo Genes that share compounds with AKR1D1: view

Transcripts for AKR1D1 Gene

mRNA/cDNA for AKR1D1 Gene

Unigene Clusters for AKR1D1 Gene

Aldo-keto reductase family 1, member D1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR1D1

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x50.9).

Protein differential expression in normal tissues from HIPED for AKR1D1 Gene

This gene is overexpressed in Nasopharynx (15.5), Liver (11.8), and Liver, secretome (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKR1D1 Gene



NURSA nuclear receptor signaling pathways regulating expression of AKR1D1 Gene:

AKR1D1

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.

Evidence on tissue expression from TISSUES for AKR1D1 Gene

  • Liver(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AKR1D1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with AKR1D1: view

No data available for Protein tissue co-expression partners for AKR1D1 Gene

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 34 33
  • 99.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
AKR1D1 33
  • 91.64 (n)
-- 34
  • 89 (a)
OneToMany
cow
(Bos Taurus)
Mammalia AKR1D1 34 33
  • 89.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Akr1d1 16 34 33
  • 83.08 (n)
rat
(Rattus norvegicus)
Mammalia Akr1d1 33
  • 82.26 (n)
oppossum
(Monodelphis domestica)
Mammalia AKR1D1 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKR1D1 34
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKR1D1 34 33
  • 75.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKR1D1 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akr1d1 33
  • 71.06 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:56622 34
  • 39 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10265 33
fruit fly
(Drosophila melanogaster)
Insecta CG6084 35
  • 49 (a)
CG12766 35
  • 42 (a)
CG10638 35
  • 42 (a)
BcDNA:GH10614 35
  • 41 (a)
CG9436 35
  • 40 (a)
CG2767 34 35
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y39G8B.1a 35
  • 42 (a)
Y39G8B.1b 35
  • 40 (a)
T08H10.1 35
  • 38 (a)
C07D8.6 35
  • 37 (a)
ZC443.1 34 35
  • 36 (a)
ManyToMany
Y39G8B.2 35
  • 32 (a)
F53F1.3 35
  • 32 (a)
F53F1.2 35
  • 31 (a)
K07C5.2 35
  • 31 (a)
C01G5.5 35
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GRE3 36 34
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
ManyToMany
CSA.5991 34
  • 15 (a)
ManyToMany
Species where no ortholog for AKR1D1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AKR1D1: view image

Paralogs for AKR1D1 Gene

Paralogs for AKR1D1 Gene

(11) SIMAP similar genes for AKR1D1 Gene using alignment to 5 proteins:

  • AK1D1_HUMAN
  • C4PL35_HUMAN
  • C4PL36_HUMAN
  • C4PL37_HUMAN
  • C9J3U1_HUMAN

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 Variation AA Info Type
rs1025518752 uncertain-significance, Congenital Bile Acid Synthesis Defect 138,117,559(+) T/C 3_prime_UTR_variant
rs111628978 uncertain-significance, Congenital Bile Acid Synthesis Defect 138,117,835(+) A/C/G/T 3_prime_UTR_variant
rs112833888 likely-benign, uncertain-significance, Congenital Bile Acid Synthesis Defect 138,117,815(+) C/A/G/T 3_prime_UTR_variant
rs113105583 likely-benign, Congenital Bile Acid Synthesis Defect 138,117,927(+) A/G 3_prime_UTR_variant
rs11763063 benign, Congenital Bile Acid Synthesis Defect 138,117,825(+) T/A/C 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
esv2527075 CNV insertion 19546169
esv2658716 CNV deletion 23128226
esv2735212 CNV deletion 23290073
esv2735213 CNV deletion 23290073
esv33947 CNV gain 17666407
esv34048 CNV loss 18971310
esv3615181 CNV loss 21293372
nsv437032 CNV loss 16327808
nsv518070 CNV gain 19592680
nsv831151 CNV gain+loss 17160897

Variation tolerance for AKR1D1 Gene

Residual Variation Intolerance Score: 25.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKR1D1 Gene

Human Gene Mutation Database (HGMD)
AKR1D1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKR1D1

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

Disorders for AKR1D1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AKR1D1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bile acid synthesis defect, congenital, 2
  • cbas2
congenital bile acid synthesis defect
  • bile acid synthesis defect, congenital, 1
alpha-methylacyl-coa racemase deficiency
  • amacrd
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for AKR1D1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AKR1D1: view

No data available for Genatlas for AKR1D1 Gene

Publications for AKR1D1 Gene

  1. 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 22 58
  2. Crystal structure of human liver Delta4-3-ketosteroid 5beta-reductase (AKR1D1) and implications for substrate binding and catalysis. (PMID: 18407998) Di Costanzo L … Christianson DW (The Journal of biological chemistry 2008) 3 4 22 58
  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 KH … Björkhem I (European journal of biochemistry 1994) 2 3 4 58
  4. Conversion of human steroid 5β-reductase (AKR1D1) into 3β-hydroxysteroid dehydrogenase by single point mutation E120H: example of perfect enzyme engineering. (PMID: 22437839) Chen M … Penning TM (The Journal of biological chemistry 2012) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for AKR1D1 Gene

Sources for AKR1D1 Gene

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