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Aliases for AKR1C1 Gene

Aliases for AKR1C1 Gene

  • Aldo-Keto Reductase Family 1, Member C1 2 3
  • DDH1 3 4 6
  • Dihydrodiol Dehydrogenase 1; 20-Alpha (3-Alpha)-Hydroxysteroid Dehydrogenase 2 3
  • Trans-1,2-Dihydrobenzene-1,2-Diol Dehydrogenase 3 4
  • High-Affinity Hepatic Bile Acid-Binding Protein 3 4
  • 20-Alpha-Hydroxysteroid Dehydrogenase 3 4
  • Chlordecone Reductase Homolog HAKRC 3 4
  • Dihydrodiol Dehydrogenase 1/2 3 4
  • Indanol Dehydrogenase 3 4
  • 20-ALPHA-HSD 3 4
  • DD1/DD2 3 4
  • HAKRC 3 6
  • HBAB 3 4
  • DD1 3 6
  • DDH 3 4
  • Aldo-Keto Reductase Family 1, Member C1 (Dihydrodiol Dehydrogenase 1; 20-Alpha (3-Alpha)-Hydroxysteroid Dehydrogenase) 2
  • Type II 3-Alpha-Hydroxysteroid Dehydrogenase 3
  • Aldo-Keto Reductase Family 1 Member C1 3
  • 20 Alpha-Hydroxysteroid Dehydrogenase 3
  • Dihydrodiol Dehydrogenase Isoform DD1 3
  • Hepatic Dihydrodiol Dehydrogenase 3
  • Dihydrodiol Dehydrogenase 1 3
  • Aldo-Keto Reductase C 3
  • EC 1.1.1.149 4
  • EC 1.1.1.112 4
  • 2-ALPHA-HSD 3
  • EC 1.3.1.20 4
  • EC 1.1.1.- 4
  • EC 1.1.1 63
  • H-37 3
  • MBAB 3
  • C9 3

External Ids for AKR1C1 Gene

Previous HGNC Symbols for AKR1C1 Gene

  • DDH1

Previous GeneCards Identifiers for AKR1C1 Gene

  • GC10P005053
  • GC10P004959
  • GC10P004995
  • GC10M004965
  • GC10P004934

Summaries for AKR1C1 Gene

Entrez Gene Summary for AKR1C1 Gene

  • This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]

GeneCards Summary for AKR1C1 Gene

AKR1C1 (Aldo-Keto Reductase Family 1, Member C1) is a Protein Coding gene. Diseases associated with AKR1C1 include endometrial cancer. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include aldo-keto reductase (NADP) activity and alditol:NADP+ 1-oxidoreductase activity. An important paralog of this gene is AKR1B1.

UniProtKB/Swiss-Prot for AKR1C1 Gene

  • Converts progesterone to its inactive form, 20-alpha-dihydroxyprogesterone (20-alpha-OHP). In the liver and intestine, may have a role in the transport of bile. May have a role in monitoring the intrahepatic bile acid concentration. Has a low bile-binding ability. May play a role in myelin formation.

Gene Wiki entry for AKR1C1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKR1C1 Gene

Genomics for AKR1C1 Gene

Regulatory Elements for AKR1C1 Gene

Transcription factor binding sites by QIAGEN in the AKR1C1 gene promoter:

Genomic Location for AKR1C1 Gene

Start:
4,963,253 bp from pter
End:
5,107,522 bp from pter
Size:
144,270 bases
Orientation:
Plus strand

Genomic View for AKR1C1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AKR1C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKR1C1 Gene

Proteins for AKR1C1 Gene

  • Protein details for AKR1C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04828-AK1C1_HUMAN
    Recommended name:
    Aldo-keto reductase family 1 member C1
    Protein Accession:
    Q04828
    Secondary Accessions:
    • P52896
    • Q5SR15
    • Q7M4N2
    • Q9UCX2

    Protein attributes for AKR1C1 Gene

    Size:
    323 amino acids
    Molecular mass:
    36788 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for AKR1C1 Gene

neXtProt entry for AKR1C1 Gene

Proteomics data for AKR1C1 Gene at MOPED

Selected DME Specific Peptides for AKR1C1 Gene

Post-translational modifications for AKR1C1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKR1C1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for AKR1C1 (Aldo-keto Reductase 1C1/AKR1C1)

Domains for AKR1C1 Gene

Gene Families for AKR1C1 Gene

HGNC:
  • AKR :Aldo-keto reductases

Protein Domains for AKR1C1 Gene

Suggested Antigen Peptide Sequences for AKR1C1 Gene

Graphical View of Domain Structure for InterPro Entry

Q04828

UniProtKB/Swiss-Prot:

AK1C1_HUMAN :
  • Q04828
Family:
  • Belongs to the aldo/keto reductase family.
genes like me logo Genes that share domains with AKR1C1: view

Function for AKR1C1 Gene

Molecular function for AKR1C1 Gene

GENATLAS Biochemistry:
aldo-keto reductase family 1,expressed only in kidney,liver,testis,cytosolic,member C1 (20-alpha (3-alpha)-hydroxysteroid dehydrogenase),with high affinity binding for bile acids,also catalyzing detoxification of polycyclic aromatic hydrocarbons
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=5 uM for (s)-tetralol {ECO:0000269 PubMed:11013348, ECO:0000269 PubMed:8573067}; KM=38 uM for (s)-indan-1-ol {ECO:0000269 PubMed:11013348, ECO:0000269 PubMed:8573067}; KM=580 uM for benzene dihydrodiol {ECO:0000269 PubMed:11013348, ECO:0000269 PubMed:8573067}; KM=3 uM for 5-beta-pregnane-3-alpha,20-alpha-diol {ECO:0000269 PubMed:11013348, ECO:0000269 PubMed:8573067}; KM=3 uM for 5-beta-pregnan-20-alpha-ol-3-one {ECO:0000269 PubMed:11013348, ECO:0000269 PubMed:8573067}; KM=12 uM for 4-pregnen-20-alpha-ol-3-one {ECO:0000269 PubMed:11013348, ECO:0000269 PubMed:8573067}; KM=133 uM for 9-alpha,11-beta-PGF2 {ECO:0000269 PubMed:11013348, ECO:0000269 PubMed:8573067}; KM=2 uM for 5-beta-pregnan-3-alpha-ol-20-one {ECO:0000269 PubMed:11013348, ECO:0000269 PubMed:8573067}; KM=1 uM for 5-beta-androstane-3,17-dione {ECO:0000269 PubMed:11013348, ECO:0000269 PubMed:8573067}; KM=12 uM for PGD2 {ECO:0000269 PubMed:11013348, ECO:0000269 PubMed:8573067}; KM=0.6 uM for 20-alpha-hydroxyprogesterone (with NADH) {ECO:0000269 PubMed:11013348, ECO:0000269 PubMed:8573067};
UniProtKB/Swiss-Prot CatalyticActivity:
17-alpha,20-alpha-dihydroxypregn-4-en-3-one + NAD(P)(+) = 17-alpha-hydroxyprogesterone + NAD(P)H
UniProtKB/Swiss-Prot CatalyticActivity:
Trans-1,2-dihydrobenzene-1,2-diol + NADP(+) = catechol + NADPH
UniProtKB/Swiss-Prot CatalyticActivity:
Indan-1-ol + NAD(P)(+) = indanone + NAD(P)H
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by hexestrol with an IC(50) of 9.5 uM, 1,10-phenanthroline with an IC(50) of 55 uM, 1,7-phenanthroline with an IC(50) of 72 uM, flufenamic acid with an IC(50) of 6.0 uM, indomethacin with an IC(50) of 140 uM, ibuprofen with an IC(50) of 950 uM, lithocholic acid with an IC(50) of 25 uM, ursodeoxycholic acid with an IC(50) of 340 uM and chenodeoxycholic acid with an IC(50) of 570 uM.
UniProtKB/Swiss-Prot Function:
Converts progesterone to its inactive form, 20-alpha-dihydroxyprogesterone (20-alpha-OHP). In the liver and intestine, may have a role in the transport of bile. May have a role in monitoring the intrahepatic bile acid concentration. Has a low bile-binding ability. May play a role in myelin formation.

Enzyme Numbers (IUBMB) for AKR1C1 Gene

Gene Ontology (GO) - Molecular Function for AKR1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004032 alditol:NADP+ 1-oxidoreductase activity IDA 21232532
GO:0004033 aldo-keto reductase (NADP) activity TAS 7789999
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity --
GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA 19442656
genes like me logo Genes that share ontologies with AKR1C1: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AKR1C1

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for AKR1C1 Gene

Localization for AKR1C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKR1C1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AKR1C1 Gene COMPARTMENTS Subcellular localization image for AKR1C1 gene
Compartment Confidence
cytosol 5
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AKR1C1 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 AKR1C1: view

Pathways for AKR1C1 Gene

genes like me logo Genes that share pathways with AKR1C1: view

Gene Ontology (GO) - Biological Process for AKR1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006805 xenobiotic metabolic process NAS 8486699
GO:0007586 digestion IDA 8486699
GO:0007603 phototransduction, visible light TAS --
GO:0008206 bile acid metabolic process IDA 8486699
genes like me logo Genes that share ontologies with AKR1C1: view

Compounds for AKR1C1 Gene

(14) HMDB Compounds for AKR1C1 Gene

Compound Synonyms Cas Number PubMed IDs
17-alpha,20-alpha-Dihydroxypregn-4-en-3-one
  • 17alpha,20alpha-Dihydroxypregn-4-en-3-one
652-69-7
20a-Dihydroprogesterone
  • (20S)-20-Hydroxypregn-4-en-3-one
145-14-2
Androstanedione
  • 5a-Androsta-3,17-dione
846-46-8
Androsterone
  • (3R,5S,8R,9S,10S,13S,14S)-3-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,14,15,16-tetradecahydrocyclopenta[a]phenanthren-17-one
53-41-8
Chenodeoxycholic acid
  • (+)-chenodeoxycholate
474-25-9

(7) Drugbank Compounds for AKR1C1 Gene

(41) Novoseek inferred chemical compound relationships for AKR1C1 Gene

Compound -log(P) Hits PubMed IDs
1-acenaphthenol 94 2
dihydroprogesterone 93.3 11
3alpha-hydroxysteroid 92 8
5alpha-androstane-3alpha,17beta-diol 87.8 2
hydroxysteroid 76.4 4
genes like me logo Genes that share compounds with AKR1C1: view

Transcripts for AKR1C1 Gene

Unigene Clusters for AKR1C1 Gene

Aldo-keto reductase family 1, member C1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AKR1C1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AKR1C1 Gene

No ASD Table

Relevant External Links for AKR1C1 Gene

GeneLoc Exon Structure for
AKR1C1
ECgene alternative splicing isoforms for
AKR1C1

Expression for AKR1C1 Gene

mRNA expression in normal human tissues for AKR1C1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AKR1C1 Gene

This gene is overexpressed in Liver (8.6).

Protein differential expression in normal tissues for AKR1C1 Gene

This gene is overexpressed in Adipocyte (28.3), Liver, secretome (9.7), and Liver (8.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AKR1C1 Gene

SOURCE GeneReport for Unigene cluster for AKR1C1 Gene Hs.460260

mRNA Expression by UniProt/SwissProt for AKR1C1 Gene

Q04828-AK1C1_HUMAN
Tissue specificity: Expressed in all tissues tested including liver, prostate, testis, adrenal gland, brain, uterus, mammary gland and keratinocytes. Highest levels found in liver, mammary gland and brain.
genes like me logo Genes that share expressions with AKR1C1: view

In Situ Assay Products

No data available for Expression partners for AKR1C1 Gene

Orthologs for AKR1C1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AKR1C1 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Akr1c21 35
  • 77.71 (n)
  • 73.37 (a)
Akr1c6 16
Akr1c12 36
  • 69 (a)
ManyToMany
Akr1c13 36
  • 67 (a)
ManyToMany
Akr1c14 36
  • 68 (a)
ManyToMany
Akr1c18 36
  • 72 (a)
ManyToMany
Akr1c19 36
  • 72 (a)
ManyToMany
Akr1c20 36
  • 74 (a)
ManyToMany
Akr1c21 36
  • 73 (a)
ManyToMany
Akr1c6 36
  • 77 (a)
ManyToMany
Akr1cl 36
  • 72 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia AKR1C1 35
  • 97.63 (n)
  • 97.1 (a)
-- 36
  • 97 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Akr1c2 35
  • 77.67 (n)
  • 71.07 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 73 (a)
ManyToMany
-- 36
  • 73 (a)
ManyToMany
-- 36
  • 70 (a)
ManyToMany
-- 36
  • 71 (a)
ManyToMany
-- 36
  • 76 (a)
ManyToMany
-- 36
  • 74 (a)
ManyToMany
-- 36
  • 75 (a)
ManyToMany
-- 36
  • 77 (a)
ManyToMany
-- 36
  • 72 (a)
ManyToMany
-- 36
  • 74 (a)
ManyToMany
20ALPHA-HSD 36
  • 77 (a)
ManyToMany
AKR1C4 36
  • 75 (a)
ManyToMany
BT.63212 36
  • 78 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH10614 37
  • 41 (a)
CG10638 37
  • 43 (a)
CG12766 37
  • 43 (a)
CG2767 37
  • 39 (a)
CG6083 37
  • 41 (a)
CG6084 37
  • 50 (a)
CG9436 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea C01G5.5 37
  • 30 (a)
C07D8.6 37
  • 39 (a)
C35D10.6 37
  • 31 (a)
F53F1.2 37
  • 35 (a)
F53F1.3 37
  • 35 (a)
T08H10.1 37
  • 36 (a)
Y39G8B.1a 37
  • 41 (a)
Y39G8B.1b 37
  • 40 (a)
Y39G8B.2 37
  • 35 (a)
ZC443.1 37
  • 36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G59960 35
  • 50.36 (n)
  • 43.8 (a)
Species with no ortholog for AKR1C1:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for AKR1C1 Gene

ENSEMBL:
Gene Tree for AKR1C1 (if available)
TreeFam:
Gene Tree for AKR1C1 (if available)

Paralogs for AKR1C1 Gene

Paralogs for AKR1C1 Gene

Selected SIMAP similar genes for AKR1C1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for AKR1C1 Gene

genes like me logo Genes that share paralogs with AKR1C1: view

Variants for AKR1C1 Gene

Sequence variations from dbSNP and Humsavar for AKR1C1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs8483 -- 4,977,767(+) GGTCT(A/G)CCAGA utr-variant-3-prime
rs13933 -- 4,966,933(+) TTTGG(A/T)GCAAT missense, reference
rs1138566 -- 4,963,459(+) AAATA(C/T)CAGTG synonymous-codon, reference
rs1138567 -- 4,965,932(+) AAGCT(C/T)TAGAG synonymous-codon, reference
rs1138569 -- 4,965,941(+) AGGCC(A/G)CCAAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for AKR1C1 Gene

Variant ID Type Subtype PubMed ID
nsv894783 CNV Loss 21882294
nsv894792 CNV Gain 21882294
dgv2e19 OTHER Inversion 19470904
nsv894794 CNV Loss 21882294
nsv7197 OTHER Inversion 18451855
nsv825221 CNV Loss 20364138
esv1580698 OTHER Inversion 17803354
esv9055 OTHER Inversion 19470904
dgv122n67 CNV Gain 20364138
dgv123n67 CNV Loss 20364138

Relevant External Links for AKR1C1 Gene

HapMap Linkage Disequilibrium report
AKR1C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKR1C1 Gene

Disorders for AKR1C1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for AKR1C1 Gene in MalaCards »

(1) Diseases for AKR1C1 Gene including...

(17) Novoseek inferred disease relationships for AKR1C1 Gene

Disease -log(P) Hits PubMed IDs
nsclc 42.2 19
ovarian carcinoma 41.8 5
endometrial cancer 32.7 6
colon carcinoma 32.4 2
lung tumor 26.2 3

Relevant External Links for AKR1C1

Genetic Association Database (GAD)
AKR1C1
Human Genome Epidemiology (HuGE) Navigator
AKR1C1
genes like me logo Genes that share disorders with AKR1C1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES and Genatlas for AKR1C1 Gene

Publications for AKR1C1 Gene

  1. Regulation of human dihydrodiol dehydrogenase by Michael acceptor xenobiotics. (PMID: 7515059) Ciaccio P.J. … Tew K.D. (J. Biol. Chem. 1994) 3 4 23
  2. Genomic organization and chromosomal localization of a novel human hepatic dihydrodiol dehydrogenase with high affinity bile acid binding. (PMID: 8132567) Lou H. … Stolz A. (J. Biol. Chem. 1994) 3 4 23
  3. cDNA cloning and expression of the human hepatic bile acid-binding protein. A member of the monomeric reductase gene family. (PMID: 8486699) Stolz A. … Shively J.E. (J. Biol. Chem. 1993) 3 4 23
  4. Relationship of human liver dihydrodiol dehydrogenases to hepatic bile-acid-binding protein and an oxidoreductase of human colon cells. (PMID: 8573067) Hara A. … Ishida N. (Biochem. J. 1996) 3 4 23
  5. Characterization of a human 20alpha-hydroxysteroid dehydrogenase. (PMID: 11013348) Zhang Y. … Luu-The V. (J. Mol. Endocrinol. 2000) 3 4 23

Products for AKR1C1 Gene

Sources for AKR1C1 Gene

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