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Aliases for AKR1C4 Gene

Aliases for AKR1C4 Gene

  • Aldo-Keto Reductase Family 1, Member C4 2 3 5
  • 3-Alpha-HSD1 3 4
  • HAKRA 3 4
  • CHDR 3 4
  • DD-4 3 4
  • CDR 3 4
  • DD4 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
  • 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 testicular 17,20-desmolase deficiency. Among its related pathways are Signaling by GPCR and Metabolism. 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

Chromosome:
10
Start:
5,195,462 bp from pter
End:
5,220,633 bp from pter
Size:
25,172 bases
Orientation:
Plus strand

Genomic View for AKR1C4 Gene

Genes around AKR1C4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKR1C4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for AKR1C4 (Aldo-keto Reductase 1C4/AKR1C4)

Domains & Families for AKR1C4 Gene

Gene Families for AKR1C4 Gene

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 :
  • Belongs to the aldo/keto reductase family.
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:0015125 bile acid transmembrane transporter activity TAS 8172617
genes like me logo Genes that share ontologies with AKR1C4: view
genes like me logo Genes that share phenotypes with AKR1C4: view

Human Phenotype Ontology for AKR1C4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for AKR1C4

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for AKR1C4 Gene

Pathways & Interactions 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:0008206 bile acid metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0044598 doxorubicin metabolic process IMP 20837989
GO:0055114 oxidation-reduction process IEA --
GO:0071395 cellular response to jasmonic acid stimulus IDA 19487289
genes like me logo Genes that share ontologies with AKR1C4: view

No data available for SIGNOR curated interactions for AKR1C4 Gene

Drugs & Compounds for AKR1C4 Gene

(17) Drugs for AKR1C4 Gene - From: Novoseek, DrugBank, HMDB, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Exemestane Approved, Investigational Pharma Steroidal aromatase inhibitor,selective and irreversible 197
Dihydrotestosterone Experimental, Illicit Pharma Agonist 13
Androstanedione Experimental, Illicit Pharma 0
Etiocholanolone Experimental Pharma 0
Pyrocatechol Experimental Pharma 0

(38) Additional Compounds for AKR1C4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chlordecone
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
17a,21-Dihydroxy-5b-pregnane-3,11,20-trione
  • 17,21-Dihydroxy-5-beta-pregnane-3,11,20-trione
  • 17,21-Dihydroxy-5b-pregnane-3,11,20-trione
  • 17alpha,21-Dihydroxy-5beta-pregnane-3,11,20-trione
  • 4,5-b-Dihydrocortisone
  • 4,5-beta-Dihydrocortisone
68-54-2
21-Hydroxy-5b-pregnane-3,11,20-trione
  • 21-Hydroxy-5beta-pregnane-3,11,20-trione
10417-86-4
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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x52.2).

Protein differential expression in normal tissues from HIPED for AKR1C4 Gene

This gene is overexpressed in Liver, secretome (36.6) and Liver (27.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB 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 expression patterns with AKR1C4: view

Protein tissue co-expression partners for AKR1C4 Gene

Primer Products

In Situ Assay Products

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 Akr1c6 35
  • 78.53 (n)
  • 75.85 (a)
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 36
  • 76 (a)
ManyToMany
Akr1cl 36
  • 71 (a)
ManyToMany
Akr1c6 16
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 BcDNA:GH10614 37
  • 41 (a)
CG10638 37
  • 43 (a)
CG12766 37
  • 43 (a)
CG2767 37
  • 37 (a)
CG9436 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea C07D8.6 37
  • 38 (a)
F53F1.2 37
  • 34 (a)
F53F1.3 37
  • 32 (a)
T08H10.1 37
  • 37 (a)
Y39G8B.1a 37
  • 40 (a)
Y39G8B.2 37
  • 34 (a)
ZC443.1 37
  • 35 (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

(11) 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
rs3829125 - 5,205,821(-) TGGCA(C/G)AGAGA reference, missense
rs17134592 - 5,218,719(+) TCAGT(C/G/T)TTATG reference, missense
rs11253043 - 5,205,791(+) AAATG(A/G)AAAAG reference, missense
rs17851824 - 5,206,336(+) CAACT(A/G)CAGGC reference, missense
rs4880718 - 5,213,062(+) CAAAC(A/G)AACCC reference, missense

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

Variation tolerance for AKR1C4 Gene

Residual Variation Intolerance Score: 88.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.68; 65.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AKR1C4 Gene

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

Disorders for AKR1C4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AKR1C4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
46xy sex reversal 8
  • 46xy sex reversal 8, modifier of
46,xy disorder of sex development due to testicular 17,20-desmolase deficiency
prostate cancer
  • prostate cancer, hereditary, 5
- elite association - COSMIC cancer census association via MalaCards

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}.

Relevant External Links for AKR1C4

Genetic Association Database (GAD)
AKR1C4
Human Genome Epidemiology (HuGE) Navigator
AKR1C4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AKR1C4
genes like me logo Genes that share disorders with AKR1C4: view

No data available for Genatlas for AKR1C4 Gene

Publications for AKR1C4 Gene

  1. Isolation and characterization of cloned cDNAs encoding human liver chlordecone reductase. (PMID: 2187532) Winters C.J. … Guzelian P.S. (Biochemistry 1990) 3 4 23 67
  2. 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
  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
  4. Hepatocyte nuclear factor-4 alpha/gamma and hepatocyte nuclear factor-1 alpha as causal factors of interindividual difference in the expression of human dihydrodiol dehydrogenase 4 mRNA in human livers. (PMID: 12544512) Ozeki T. … Kamataki T. (Pharmacogenetics 2003) 3 23
  5. Hepatocyte nuclear factor (HNF)-4 alpha/gamma, HNF-1 alpha, and vHNF-1 regulate the cell-specific expression of the human dihydrodiol dehydrogenase (DD)4/AKR1C4 gene. (PMID: 12220531) Ozeki T. … Kamataki T. (Arch. Biochem. Biophys. 2002) 3 23

Products for AKR1C4 Gene

Sources for AKR1C4 Gene

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