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AKR1C4 aldo-keto reductase family 1 member C4 [ Homo sapiens (human) ]

Gene ID: 1109, updated on 3-Jun-2018
Official Symbol
AKR1C4provided by HGNC
Official Full Name
aldo-keto reductase family 1 member C4provided by HGNC
Primary source
HGNC:HGNC:387
See related
Ensembl:ENSG00000198610 MIM:600451; Vega:OTTHUMG00000017591
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C11; CDR; DD4; CHDR; DD-4; HAKRA; 3-alpha-HSD
Summary
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]
Expression
Restricted expression toward liver (RPKM 165.8) See more
Orthologs
See AKR1C4 in Genome Data Viewer
Location:
10p15.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (5196835..5218947)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5238798..5260910)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984198 Neighboring gene aldo-keto reductase family 1 member C3 Neighboring gene aldo-keto reductase family 1 member C8, pseudogene Neighboring gene ADP ribosylation factor like GTPase 4A pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 2561 Neighboring gene Sharpr-MPRA regulatory region 4527 Neighboring gene aldo-keto reductase family 1 member C7, pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
46,XY sex reversal 8
MedGen: C1839840 OMIM: 614279 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC22581

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alcohol dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alditol:NADP+ 1-oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aldo-keto reductase (NADP) activity TAS
Traceable Author Statement
more info
 
androsterone dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
androsterone dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
bile acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bile acid transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
chlordecone reductase activity IEA
Inferred from Electronic Annotation
more info
 
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
ketosteroid monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA
Inferred from Direct Assay
more info
PubMed 
retinal dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
steroid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
C21-steroid hormone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
androgen metabolic process TAS
Traceable Author Statement
more info
PubMed 
bile acid and bile salt transport TAS
Traceable Author Statement
more info
PubMed 
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
cellular response to jasmonic acid stimulus IDA
Inferred from Direct Assay
more info
PubMed 
daunorubicin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
daunorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
doxorubicin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
doxorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
progesterone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
prostaglandin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
Preferred Names
aldo-keto reductase family 1 member C4
Names
3-alpha-HSD1
chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4
dihydrodiol dehydrogenase isozyme DD4
type I 3-alpha-hydroxysteroid dehydrogenase
NP_001809.3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031872.1 RefSeqGene

    Range
    5001..27113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001818.3NP_001809.3  aldo-keto reductase family 1 member C4

    See identical proteins and their annotated locations for NP_001809.3

    Status: REVIEWED

    Source sequence(s)
    BC020744, D26125
    Consensus CDS
    CCDS7064.1
    UniProtKB/Swiss-Prot
    P17516
    Related
    ENSP00000263126.1, ENST00000263126.2
    Conserved Domains (2) summary
    COG0656
    Location:7310
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:17297
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    5196835..5218947
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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