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Aliases for AKR1C4 Gene

Aliases for AKR1C4 Gene

  • Aldo-Keto Reductase Family 1, Member C4 2 3
  • HAKRA 3 4 6
  • CHDR 3 4 6
  • CDR 3 4 6
  • DD4 3 4 6
  • 3-Alpha-HSD1 3 4
  • DD-4 3 4
  • Aldo-Keto Reductase Family 1, Member C4 (Chlordecone Reductase; 3-Alpha Hydroxysteroid Dehydrogenase, Type I; Dihydrodiol Dehydrogenase 4) 2
  • Chlordecone Reductase; 3-Alpha Hydroxysteroid Dehydrogenase, Type I; Dihydrodiol Dehydrogenase 4 3
  • Chlordecone Reductase; 3-Alpha Hydroxysteroid Dehydrogenase 2
  • Type I 3-Alpha-Hydroxysteroid Dehydrogenase 3
  • 3-Alpha-Hydroxysteroid Dehydrogenase Type I 4
  • Aldo-Keto Reductase Family 1 Member C4 3
  • Dihydrodiol Dehydrogenase Isozyme DD4 3
  • Type I; Dihydrodiol Dehydrogenase 4 2
  • Dihydrodiol Dehydrogenase 4 4
  • Chlordecone Reductase 4
  • EC 1.1.1.274 63
  • EC 1.1.1.357 4
  • EC 1.1.1.225 4
  • 3-Alpha-HSD 3
  • EC 1.1.1.- 4
  • EC 1.1.1 63
  • C11 3

External Ids for AKR1C4 Gene

Previous HGNC Symbols for AKR1C4 Gene

  • CHDR

Previous GeneCards Identifiers for AKR1C4 Gene

  • GC10P005286
  • GC10P005105
  • GC10P005091
  • GC10P005092

Summaries for AKR1C4 Gene

Entrez Gene Summary for AKR1C4 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 bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. 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 AKR1C4 Gene

AKR1C4 (Aldo-Keto Reductase Family 1, Member C4) is a Protein Coding gene. Diseases associated with AKR1C4 include 46xy sex reversal 8 and 46,xy disorder of sex development due to isolated 17,20 lyase deficiency. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include electron carrier activity and oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor. An important paralog of this gene is AKR1B1.

UniProtKB/Swiss-Prot for AKR1C4 Gene

  • Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20-alpha-hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route

Gene Wiki entry for AKR1C4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKR1C4 Gene

Genomics for AKR1C4 Gene

Regulatory Elements for AKR1C4 Gene

Genomic Location for AKR1C4 Gene

Start:
5,195,462 bp from pter
End:
5,218,949 bp from pter
Size:
23,488 bases
Orientation:
Plus strand

Genomic View for AKR1C4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AKR1C4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKR1C4 Gene

Proteins for AKR1C4 Gene

  • Protein details for AKR1C4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17516-AK1C4_HUMAN
    Recommended name:
    Aldo-keto reductase family 1 member C4
    Protein Accession:
    P17516
    Secondary Accessions:
    • Q5T6A3
    • Q8WW84
    • Q9NS54

    Protein attributes for AKR1C4 Gene

    Size:
    323 amino acids
    Molecular mass:
    37067 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAA35658.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AKR1C4 Gene

neXtProt entry for AKR1C4 Gene

Proteomics data for AKR1C4 Gene at MOPED

Selected DME Specific Peptides for AKR1C4 Gene

Post-translational modifications for AKR1C4 Gene

Other Protein References for AKR1C4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for AKR1C4 Gene

Gene Families for AKR1C4 Gene

HGNC:
  • AKR :Aldo-keto reductases

Protein Domains for AKR1C4 Gene

Suggested Antigen Peptide Sequences for AKR1C4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P17516

UniProtKB/Swiss-Prot:

AK1C4_HUMAN :
  • P17516
Family:
  • Belongs to the aldo/keto reductase family.
genes like me logo Genes that share domains with AKR1C4: view

Function for AKR1C4 Gene

Molecular function for AKR1C4 Gene

GENATLAS Biochemistry: aldo-keto reductase family 1,member C4 (3-alpha hydroxysteroid dehydrogenase,type I),with high affinity for dihydrotestosterone,chlordecone reductase,specifically expressed in liver,cytosolic,catalyzing detoxification of organochloride pesticids
UniProtKB/Swiss-Prot CatalyticActivity: Chlordecone alcohol + NADP(+) = chlordecone + NADPH
UniProtKB/Swiss-Prot CatalyticActivity: A 3-alpha-hydroxysteroid + NAD(P)(+) = a 3-oxosteroid + NAD(P)H
UniProtKB/Swiss-Prot Function: Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20-alpha-hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route

Enzyme Numbers (IUBMB) for AKR1C4 Gene

Gene Ontology (GO) - Molecular Function for AKR1C4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001758 retinal dehydrogenase activity IDA 21851338
GO:0004033 aldo-keto reductase (NADP) activity TAS 7650035
GO:0009055 electron carrier activity TAS 8172617
GO:0015125 bile acid transmembrane transporter activity TAS 8172617
GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA 20837989
genes like me logo Genes that share ontologies with AKR1C4: view
genes like me logo Genes that share phenotypes with AKR1C4: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for AKR1C4 Gene

Localization for AKR1C4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKR1C4 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AKR1C4 Gene COMPARTMENTS Subcellular localization image for AKR1C4 gene
Compartment Confidence
cytosol 4
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AKR1C4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 2187532
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with AKR1C4: view

Pathways for AKR1C4 Gene

genes like me logo Genes that share pathways with AKR1C4: view

Pathways by source for AKR1C4 Gene

Interacting Proteins for AKR1C4 Gene

Gene Ontology (GO) - Biological Process for AKR1C4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006699 bile acid biosynthetic process TAS --
GO:0007603 phototransduction, visible light TAS --
GO:0008202 steroid metabolic process TAS 8274401
GO:0008206 bile acid metabolic process TAS --
genes like me logo Genes that share ontologies with AKR1C4: view

Compounds for AKR1C4 Gene

(27) HMDB Compounds for AKR1C4 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
17a,21-Dihydroxy-5b-pregnane-3,11,20-trione
  • 5beta-Pregnane-17alpha,21-diol-3,11,20-trione
68-54-2
21-Hydroxy-5b-pregnane-3,11,20-trione
  • 21-Hydroxy-5beta-pregnane-3,11,20-trione
10417-86-4
3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al
  • Not Available
Not Available

(1) Drugbank Compounds for AKR1C4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(26) Novoseek inferred chemical compound relationships for AKR1C4 Gene

Compound -log(P) Hits PubMed IDs
3alpha-hydroxysteroid 97.7 40
5alpha-androstane-3alpha,17beta-diol 94.5 10
1-acenaphthenol 89.3 1
chlordecone 88.9 8
dihydroprogesterone 88.7 1
genes like me logo Genes that share compounds with AKR1C4: view

Transcripts for AKR1C4 Gene

mRNA/cDNA for AKR1C4 Gene

Unigene Clusters for AKR1C4 Gene

Aldo-keto reductase family 1, member C4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AKR1C4 Gene

No ASD Table

Relevant External Links for AKR1C4 Gene

GeneLoc Exon Structure for
AKR1C4
ECgene alternative splicing isoforms for
AKR1C4

Expression for AKR1C4 Gene

mRNA expression in normal human tissues for AKR1C4 Gene

mRNA differential expression in normal tissues according to GTEx for AKR1C4 Gene

This gene is overexpressed in Liver (52.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AKR1C4 Gene

SOURCE GeneReport for Unigene cluster for AKR1C4 Gene Hs.567245

mRNA Expression by UniProt/SwissProt for AKR1C4 Gene

P17516-AK1C4_HUMAN
Tissue specificity: Liver specific.
genes like me logo Genes that share expressions with AKR1C4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for AKR1C4 Gene

Orthologs for AKR1C4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AKR1C4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKR1C4 35
  • 98.66 (n)
  • 97.83 (a)
AKR1C4 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 73 (a)
ManyToMany
-- 36
  • 72 (a)
ManyToMany
-- 36
  • 70 (a)
ManyToMany
-- 36
  • 69 (a)
ManyToMany
-- 36
  • 76 (a)
ManyToMany
-- 36
  • 76 (a)
ManyToMany
-- 36
  • 75 (a)
ManyToMany
-- 36
  • 75 (a)
ManyToMany
-- 36
  • 69 (a)
ManyToMany
-- 36
  • 72 (a)
ManyToMany
20ALPHA-HSD 36
  • 77 (a)
ManyToMany
AKR1C4 36
  • 73 (a)
ManyToMany
BT.63212 36
  • 76 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Akr1c12 36
  • 67 (a)
ManyToMany
Akr1c13 36
  • 66 (a)
ManyToMany
Akr1c14 36
  • 68 (a)
ManyToMany
Akr1c18 36
  • 70 (a)
ManyToMany
Akr1c19 36
  • 70 (a)
ManyToMany
Akr1c20 36
  • 73 (a)
ManyToMany
Akr1c21 36
  • 72 (a)
ManyToMany
Akr1c6 35
  • 78.53 (n)
  • 75.85 (a)
Akr1c6 36
  • 76 (a)
ManyToMany
Akr1cl 36
  • 71 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Akr1c1 35
  • 77.61 (n)
  • 73.99 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia akr1c4 35
  • 64.24 (n)
  • 62.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10638 37
  • 43 (a)
BcDNA:GH10614 37
  • 41 (a)
CG9436 37
  • 41 (a)
CG2767 37
  • 37 (a)
CG12766 37
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea T08H10.1 37
  • 37 (a)
C07D8.6 37
  • 38 (a)
F53F1.2 37
  • 34 (a)
ZC443.1 37
  • 35 (a)
Y39G8B.2 37
  • 34 (a)
F53F1.3 37
  • 32 (a)
Y39G8B.1a 37
  • 40 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G62420 35
  • 47.17 (n)
  • 37.76 (a)
Species with no ortholog for AKR1C4:
  • 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)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for AKR1C4 Gene

ENSEMBL:
Gene Tree for AKR1C4 (if available)
TreeFam:
Gene Tree for AKR1C4 (if available)

Paralogs for AKR1C4 Gene

Paralogs for AKR1C4 Gene

Selected SIMAP similar genes for AKR1C4 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for AKR1C4 Gene

genes like me logo Genes that share paralogs with AKR1C4: view

Variants for AKR1C4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AKR1C4 Gene

P17516-AK1C4_HUMAN
The allele with Cys-145/Val-311 shows a three- to five-fold decrease in catalytic efficiency for xenobiotic and steroidal substrates compared to the Ser-145/Leu-311 allele

Sequence variations from dbSNP and Humsavar for AKR1C4 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs915135 -- 5,212,465(+) ACCAG(C/T)AATAT intron-variant
rs1334472 -- 5,213,711(+) TTGAA(A/G)TTTAG intron-variant
rs1334473 -- 5,213,726(+) AAGCT(C/T)CACCT intron-variant
rs1334474 -- 5,207,414(-) TACAG(A/T)GTTCC intron-variant
rs1334475 -- 5,206,624(-) CCCCC(A/C)AAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AKR1C4 Gene

Variant ID Type Subtype PubMed ID
nsv894783 CNV Loss 21882294
nsv894792 CNV Gain 21882294
esv2731707 CNV Deletion 23290073
esv4943 CNV Deletion 18987735
nsv5643 CNV Loss 18451855
esv23753 CNV Loss 19812545
esv2665273 CNV Deletion 23128226
esv2673923 CNV Deletion 23128226
nsv508566 CNV Loss 20534489

Relevant External Links for AKR1C4 Gene

HapMap Linkage Disequilibrium report
AKR1C4
Human Gene Mutation Database (HGMD)
AKR1C4

Disorders for AKR1C4 Gene

(1) OMIM Diseases for AKR1C4 Gene (600451)

UniProtKB/Swiss-Prot

AK1C4_HUMAN
  • 46,XY sex reversal 8 (SRXY8) [MIM:614279]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. {ECO:0000269 PubMed:21802064}. Note=The gene represented in this entry may act as a disease modifier. A splicing mutation resulting in loss of AKR1C4 exon 2 has been found in affected individuals carrying a causative mutation in AKR1C2 (PubMed:21802064). These patients manifest a more severe disease phenotype than individuals only carrying mutations in AKR1C2. {ECO:0000269 PubMed:21802064}.

(5) Novoseek inferred disease relationships for AKR1C4 Gene

Disease -log(P) Hits PubMed IDs
benign prostatic hyperplasia 38.1 2
prostate cancer 26.4 2
prostate carcinoma 26.1 1
colon carcinoma 15.1 1
carcinoma renal cell 0.174 1

Relevant External Links for AKR1C4

Genetic Association Database (GAD)
AKR1C4
Human Genome Epidemiology (HuGE) Navigator
AKR1C4
genes like me logo Genes that share disorders with AKR1C4: view

Publications for AKR1C4 Gene

  1. Molecular cloning of two human liver 3 alpha- hydroxysteroid/dihydrodiol dehydrogenase isoenzymes that are identical with chlordecone reductase and bile-acid binder. (PMID: 8172617) Deyashiki Y. … Hara A. (Biochem. J. 1994) 3 4 23
  2. Close kinship of human 20alpha-hydroxysteroid dehydrogenase gene with three aldo-keto reductase genes. (PMID: 10672042) Nishizawa M. … Ito S. (Genes Cells 2000) 3 4 23
  3. Polymorphisms in genes involved in estrogen and progesterone metabolism and mammographic density changes in women randomized to postmenopausal hormone therapy: results from a pilot study. (PMID: 15987428) Lord S.J. … Ursin G. (Breast Cancer Res. 2005) 3 23 48
  4. Isolation and characterization of cloned cDNAs encoding human liver chlordecone reductase. (PMID: 2187532) Winters C.J. … Guzelian P.S. (Biochemistry 1990) 3 4 23
  5. Localization of multiple human dihydrodiol dehydrogenase (DDH1 and DDH2) and chlordecone reductase (CHDR) genes in chromosome 10 by the polymerase chain reaction and fluorescence in situ hybridization. (PMID: 7789999) Khanna M. … Cheng K.C. (Genomics 1995) 2 3 23

Products for AKR1C4 Gene

Sources for AKR1C4 Gene

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