AKR1C4 Gene
protein-coding GIFtS: 66
GCID: GC10P005228
|
|
aldo-keto reductase family 1, member C4(Previous names: aldo-keto reductase family 1, member C4 (chlordecone reductase;...) (Previous symbol: CHDR)
| |
Aliases for AKR1C4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Aldo-Keto Reductase Family 1, Member C41 2 | | Chlordecone Reductase; 3-Alpha Hydroxysteroid Dehydrogenase, Type I;Dihydrodiol Dehydrogenase 42 | | CDR1 2 3 5 | | Dihydrodiol Dehydrogenase Isozyme DD42 | | CHDR1 2 3 5 | | Type I 3-Alpha-Hydroxysteroid Dehydrogenase2 | | DD41 2 3 5 | | 3-Alpha-Hydroxysteroid Dehydrogenase Type I3 | | HAKRA1 2 3 5 | | EC 1.1.1.-3 | | 3-Alpha-HSD1 | | EC 1.1.1.2253 | | C111 2 | | EC 1.1.1.503 | | 3-Alpha-HSD11 | | Chlordecone Reductase3 | | DD-42 3 | | Dihydrodiol Dehydrogenase 43 | | MGC225811 | | EC 1.1.18 | | Aldo-Keto Reductase Family 1, Member C4 (Chlordecone Reductase; 3-AlphaHydroxysteroid Dehydrogenase, Type I; Dihydrodiol Dehydrogenase 4)1 | | EC 1.1.1.2748 | | Aldo-Keto Reductase Family 1 Member C42 | | |
Export aliases for AKR1C4 gene to outside databasesPrevious GC identifers: GC10P005286 GC10P005105 GC10P005091 GC10P005092 |
Summaries for AKR1C4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for AKR1C4: This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes andproteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizingNADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzymecatalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. Thisgene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome10p15-p14. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516Function: 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 biliaryexcretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route Gene Wiki entry for AKR1C4
|
Genomic Views for AKR1C4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_008705.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the AKR1C4 gene promoter: HFH-3 STAT1 FOXF2 Pax-6 HNF-4alpha2 HNF-4alpha1 Evi-1 C/EBPalpha FOXI1 FOXO4 Other transcription factors
Search SABiosciences Chromatin IP Primers for AKR1C4
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKR1C4 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10p15.1 Ensembl cytogenetic band: 10p15.1 HGNC cytogenetic band: 10p15.1AKR1C4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P005228: view genomic region
(about GC identifiers)
Start:
|
5,237,426 bp from pter |
End:
|
5,260,912 bp from pter |
Size:
|
23,487 bases |
Orientation:
|
plus strand |
|
Proteins for AKR1C4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516 (See
protein sequence)Recommended Name: Aldo-keto reductase family 1 member C4 Size: 323 amino acids; 37067 Da
Subunit: Monomer
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAA35658.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for AKR1C4:2FVL (3D)
 
Secondary accessions: Q5T6A3 Q8WW84 Q9NS54Explore the universe of human proteins at neXtProt for AKR1C4: NX_P17516
Post-translational modifications:
The N-terminus is blocked1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P17516 3 DME Specific Peptides for AKR1C4 (P17516)
AKR1C4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001809.3 ENSEMBL proteins: ENSP00000369814 ENSP00000263126 Reactome Protein details: P17516 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
AKR1C4 for ontologies About GeneDecksing
AKR1C4 Antibody Products: Assay Products for AKR1C4: |
Protein
Domains / Families for AKR1C4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AKR1C4 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P17516ProtoNet protein and cluster: P17516 1 Blocks protein family: IPB001395 Aldo/keto reductase
UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516Similarity: Belongs to the aldo/keto reductase family |
Function for AKR1C4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516Function: 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 biliaryexcretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory routeCatalytic activity: Chlordecone alcohol + NADP(+) = chlordecone + NADPHCatalytic activity: A 3-alpha-hydroxysteroid + NAD(P)(+) = a 3-oxosteroid + NAD(P)H Genatlas biochemistry entry for AKR1C4:aldo-keto reductase family 1,member C4 (3-alpha hydroxysteroid dehydrogenase,type I),with high affinity fordihydrotestosterone,chlordecone reductase,specifically expressed in liver,cytosolic,catalyzing detoxification oforganochloride pesticids Enzyme Numbers (IUBMB): EC 1.1.1.2251 EC 1.1.1.501 EC 1.1.12 EC 1.1.1.-1 EC 1.1.1.2742
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AKR1C4 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AKR1C4 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: AKR1C4 (NM_001818) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AKR1C4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKR1C4  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1C4 |
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001758 | retinal dehydrogenase activity |
IDA | -- | | 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 | -- |
AKR1C4 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for AKR1C4:
|
Pathways & Interactions for AKR1C4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Synthesis of bile acids and bile salts | | | 2 | Retinoid metabolism and transport | | | 3 | Metabolism | | | 4 | Naphthalene metabolism | | | 5 | Disease | |
Pathway sources See GeneCards unified pathways Show all pathways
1 EMD Millipore Pathway for AKR1C4
1 GeneGo (Thomson Reuters) Pathway for AKR1C4 2 BioSystems Pathways for AKR1C4 
5/12
Reactome Pathways for AKR1C4 (see all 12)
4
Kegg Pathways (Kegg details for AKR1C4):
AKR1C4 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AKR1C4
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/33 Interacting proteins for AKR1C4 (ENSP000002631264) via UniProtKB, MINT, STRING, and/or I2D (see all 33)About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table
AKR1C4 for ontologies About GeneDecksing
|
Drugs & Compounds for AKR1C4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
AKR1C4 for compounds About GeneDecksing
Browse Tocris compounds for AKR1C4
10/27 HMDB Compounds for AKR1C4 (see all 27) About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| 11b,21-Dihydroxy-3,20-oxo-5b-pregnan-18-al | -- (see all 2) | -- | -- | | 11b,21-Dihydroxy-5b-pregnane-3,20-dione | 5beta-Pregnane-11beta,21-diol-3,20-dione (see all 2) | 566-01-8 | -- | | 17a,21-Dihydroxy-5b-pregnane-3,11,20-trione | 5beta-Pregnane-17alpha,21-diol-3,11,20-trione (see all 8) | 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 | -- (see all 2) | -- | -- | | 3a,21-Dihydroxy-5b-pregnane-11,20-dione | 5beta-Pregnane-3alpha,21-diol-11,20-dione (see all 2) | 566-03-0 | -- | | 3a,7a-Dihydroxy-5b-cholestane | 5beta-Cholestane-3alpha,7alpha-diol (see all 5) | 3862-26-8 | -- | | 3a-Hydroxy-5b-pregnane-20-one | 3alpha-Hydroxy-5beta-pregnane-20-one | -- | -- | | 5-b-Cholestane-3a ,7a ,12a-triol | 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol (see all 3) | -- | -- | | 5a-Pregnane-3,20-dione | 3,20-Allopregnanedione (see all 15) | 566-65-4 | -- |
1 DrugBank Compound for AKR1C4 About this table
10/26 Novoseek chemical compound relationships for AKR1C4 gene (see all 26) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| 3alpha-hydroxysteroid |
97.7 |
41 |
18024509 (2), 12604226 (2), 8172618 (1), 9415401 (1) (see all 38) |
| 5alpha-androstane-3alpha,17beta-diol |
94.5 |
10 |
9415401 (1), 18252781 (1), 17223255 (1), 10487690 (1) (see all 10) |
| 1-acenaphthenol |
89.3 |
2 |
10510318 (1) |
| chlordecone |
88.9 |
8 |
7789999 (2), 8172618 (1), 10510318 (1), 1922097 (1) (see all 7) |
| dihydroprogesterone |
88.7 |
1 |
18984031 (1) |
| dihydrotestosterone |
86 |
37 |
10760475 (3), 10487690 (3), 18252781 (2), 15383625 (2) (see all 14) |
| 5alpha-dihydroprogesterone |
81.4 |
5 |
12416991 (2), 11744079 (1), 16018803 (1) |
| allopregnanolone |
71.8 |
11 |
12416991 (5), 16018803 (1) |
| 17beta-hydroxysteroid |
71.2 |
3 |
17662597 (1), 9188497 (1), 14672737 (1) |
| bile acid |
70.3 |
1 |
8172617 (1) |
Search CenterWatch for drugs/clinical trials and news about AKR1C4 / AK1C4 
|
Transcripts for AKR1C4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for AKR1C4 gene: NM_001818.3 Unigene Cluster for AKR1C4: Aldo-keto reductase family 1, member C4 Hs.567245 [show with all ESTs]Unigene Representative Sequence: BC0207443 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000469875 ENST00000380448 ENST00000263126(uc001ihw.2)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AKR1C4 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AKR1C4 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: AKR1C4 (NM_001818) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AKR1C4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKR1C4  |
Additional cDNA sequence: AB031085.1 AB045829.1 AK314988.1 BC020744.1 D26125.1 M33375.1 S68287.1 6 DOTS entries: DT.87079401 DT.91965414 DT.219274 DT.92462921 DT.92462951 DT.97855879 24/36 AceView cDNA sequences (see all 36): BM825023 T74919 BG616711 NM_001818 D26125 AV694764 AB031085 AV645550 BG188594 M33375 AV658612 BX283533 BG616759 S68287 BC020744 AV653980 AV687340 AV646269 AB045829 BG196882 BG215635 AV691883 BG616798 T74867 GeneLoc Exon Structure
|
Expression for AKR1C4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AKR1C4 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GTCCAGAAAG
About this image See AKR1C4 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for AKR1C4
SOURCE GeneReport for Unigene cluster: Hs.567245 UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516Tissue specificity: Liver specific SABiosciences Custom PCR Arrays for AKR1C4
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AKR1C4 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AKR1C4 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AKR1C4 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AKR1C4 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1C4 |
Orthologs for AKR1C4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for AKR1C4 gene from 7/20 species (see all 20) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Akr1c61 |
aldo-keto reductase family 1, member C6 |
78.53(n) 75.85(a) |
  |
83702 NM_030611.3 NP_085114.1 |
lizard (Anolis carolinensis) |
Reptilia |
-- |
-- |
42(a) |
possible ortholog |
AAWZ02039178(2232-9058) |
African clawed frog (Xenopus laevis) |
Amphibia |
BC060397.12 |
-- |
76.21(n) |
  |
BC060397.1 |
zebrafish (Danio rerio) |
Actinopterygii |
zgc:566226 |
zgc:56622 |
44(a) |
possible ortholog |
18(12660381-12669534) |
fruit fly (Drosophila melanogaster) |
Insecta |
CG127663 |
aldehyde reductase |
43(a) (best of 5) |
  |
64A1 -- |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
AT5G016701 |
putative aldose reductase |
50.17(n) 37.88(a) |
  |
831701 NM_120245.3 NP_195787.2 |
rice (Oryza sativa) |
Liliopsida |
Os05g04746001 |
hypothetical protein |
50(n) 40.22(a) |
  |
4339090 NM_001062361.1 NP_001055826.1 |
ENSEMBL Gene Tree for AKR1C4 (if available) TreeFam Gene Tree for AKR1C4 (if available)  |
Paralogs for AKR1C4 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for AKR1C4 gene
- AKR1C22 AKR1C32 AKR1CL12 AKR1B102 AKR1A12 AKR1E22 AKR1B152 AKR1B12
- AKR1D12 AKR1C12
11 SIMAP similar genes for AKR1C4 using alignment to 1 protein entry: AK1C4_HUMAN:AKR1C3 AKR1C1 AKR1C2 AKR1CL1 AKR1D1 AKR1B15 AKR1B1 AKR1B10 AKR1E2 AKR1A1 LOC402299
AKR1C4 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for AKR1C4 PGOHUM00000262838
|
Genomic Variants for AKR1C4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
| UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516Polymorphism: The allele with Cys-145/Val-311 shows a three- to five-fold decrease in catalytic efficiency forxenobiotic and steroidal substrates compared to the Ser-145/Leu-311 allele
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 10 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for AKR1C4 (5237426 - 5260912 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 6 variations for AKR1C4 3 CNVs: 43699 65576 34880 3 Indels: 85086 85085 75085 Human Gene Mutation Database (HGMD): AKR1C4
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AKR1C4 |
|
Disorders
/ Diseases for AKR1C4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AKR1C4 for disorders About GeneDecksing
OMIM gene information: 600451
OMIM disorders: --
UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516
Defects in AKR1C4 are a cause of 46,XY sex reversal type 8 (SRXY8) [MIM:614279]. A disorder of sexdevelopment. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. Note=AKR1C4mutations may act as modifier of disease severity in SRXY8 patients. A splicing mutation resulting in loss of exon 2has been found in affected individuals also carrying mutation Val-79 in AKR1C2 (PubMed:21802064) 17 diseases for AKR1C4: About MalaCardsxy sex reversal sex reversal disorders of sex development alcoholism bipolar disorder prostate cancer prostate cancer, progression of prostatitis prostate carcinoma liver disease pulmonary disease carcinoma alzheimer's disease breast cancer retinitis hepatitis neuronitis
5 Novoseek disease relationships for AKR1C4 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| benign prostatic hyperplasia |
38.1 |
2 |
9415401 (1), 10760475 (1) |
| prostate cancer |
26.4 |
2 |
18320593 (2) |
| prostate carcinoma |
26.1 |
1 |
9415401 (1) |
| colon carcinoma |
15.1 |
1 |
8573067 (1) |
| carcinoma renal cell |
0.174 |
1 |
12220531 (1) |
Genetic Association Database (GAD): AKR1C4 Human Genome Epidemiology (HuGE) Navigator: AKR1C4 (9 documents) Export disorders for AKR1C4 gene to outside databases
|
Publications for AKR1C4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for AKR1C4 gene, integrated from 9 sources (see all 115): (articles sorted by number of sources associating them with AKR1C4) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Isolation and characterization of cloned cDNAs encoding human liver chlordecone reductase. (PubMed id 2187532)1, 2, 9 Winters C.J.... Guzelian P.S. (1990)
- 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. (PubMed id 15987428)1, 4, 9 Lord S.J....Ursin G. (2005)
- 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. (PubMed id 7789999)1, 3, 9 Khanna M....Cheng K.C. (1995)
- Molecular cloning of two human liver 3 alpha- hydroxysteroid/dihydrodiol dehydrogenase isoenzymes that are identical with chlordecone reductase and bile-acid binder. (PubMed id 8172617)1, 2, 9 Deyashiki Y.... Hara A. (1994)
- Close kinship of human 20alpha-hydroxysteroid dehydrogenase gene with three aldo-keto reductase genes. (PubMed id 10672042)1, 2, 9 Nishizawa M.... Ito S. (2000)
- The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Human types 1 and 3 3 alpha-hydroxysteroid dehydrogenases: differential lability and tissue distribution. (PubMed id 11158055)1, 2 Dufort I.... Luu-The V. (2001)
- Characterization of a novel variant (S145C/L311V) of 3alpha- hydroxysteroid/dihydrodiol dehydrogenase in human liver. (PubMed id 10634139)1, 2 Kume T.... Kamataki T. (1999)
- Distribution of 3 alpha-hydroxysteroid dehydrogenase in rat brain and molecular cloning of multiple cDNAs encoding structurally related proteins in humans. (PubMed id 7626489)1, 2 Khanna M.... Cheng K.-C. (1995)
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External Searches for AKR1C4 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing AKR1C4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing AKR1C4 gene
(According to HUGE)
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Specialized Databases showing AKR1C4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| PharmGKB entry for AKR1C4 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for AKR1C4 gene: Search GeneIP for patents involving AKR1C4
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for AKR1C4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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