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

    Gene ID: 1109, updated on 19-Sep-2024

    Summary

    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; AllianceGenome:HGNC:387
    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
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    Genomic context

    See AKR1C4 in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (5196837..5218949)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (5198604..5220700)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5238800..5260912)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member C3 Neighboring gene U8 small nucleolar RNA Neighboring gene Sharpr-MPRA regulatory region 1972 Neighboring gene aldo-keto reductase family 1 member C8 Neighboring gene MPRA-validated peak852 silencer Neighboring gene MPRA-validated peak853 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr10:5241916-5242139 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13158 Neighboring gene ARF like GTPase 4A pseudogene 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13180 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:5313502-5314701 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
    MedGen: C1839840 OMIM: 614279 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC22581

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables aldo-keto reductase (NADPH) activity TAS
    Traceable Author Statement
    more info
     
    enables aldose reductase (NADPH) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables androstan-3-alpha,17-beta-diol dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables androsterone dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables androsterone dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables bile acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables bile acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables chlordecone reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables electron transfer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ketosteroid monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables retinal dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables testosterone 17-beta-dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables testosterone dehydrogenase (NAD+) activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables testosterone dehydrogenase [NAD(P)+] activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in androgen metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in bile acid and bile salt transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in cellular response to jasmonic acid stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in daunorubicin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in daunorubicin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in doxorubicin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in doxorubicin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in progesterone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in prostaglandin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in retinoid metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in steroid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    aldo-keto reductase family 1 member C4
    Names
    3-alpha-HSD1
    3alpha-hydroxysteroid 3-dehydrogenase
    chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4
    dihydrodiol dehydrogenase isozyme DD4
    type I 3-alpha-hydroxysteroid dehydrogenase
    NP_001809.4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_031872.2 RefSeqGene

      Range
      5002..27114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001818.5NP_001809.4  aldo-keto reductase family 1 member C4

      Status: REVIEWED

      Source sequence(s)
      AL355303
      Consensus CDS
      CCDS7064.1
      UniProtKB/Swiss-Prot
      P17516, Q5T6A3, Q8WW84, Q9NS54
      Related
      ENSP00000263126.1, ENST00000263126.3
      Conserved Domains (1) summary
      cd19108
      Location:6306
      AKR_AKR1C1-35; AKR1C family of aldo-keto reductase (AKR)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      5196837..5218949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      5198604..5220700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)