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    AKR1C1 aldo-keto reductase family 1 member C1 [ Homo sapiens (human) ]

    Gene ID: 1645, updated on 4-Jan-2025

    Summary

    Official Symbol
    AKR1C1provided by HGNC
    Official Full Name
    aldo-keto reductase family 1 member C1provided by HGNC
    Primary source
    HGNC:HGNC:384
    See related
    Ensembl:ENSG00000187134 MIM:600449; AllianceGenome:HGNC:384
    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
    C9; DD1; DDH; DDH1; H-37; HBAB; MBAB; HAKRC; DD1/DD2; 2-ALPHA-HSD; 20-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 reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. 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
    Biased expression in liver (RPKM 85.2), fat (RPKM 74.3) and 13 other tissues See more
    Orthologs
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    Genomic context

    See AKR1C1 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 (4963415..4983283)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (4963746..4983614)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5005607..5025475)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376375 Neighboring gene uncharacterized LOC105376374 Neighboring gene NANOG hESC enhancer GRCh37_chr10:4857623-4858270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2078 Neighboring gene Sharpr-MPRA regulatory region 4775 Neighboring gene aldo-keto reductase family 1 member E2 Neighboring gene CRISPRi-validated cis-regulatory element chr10.180 Neighboring gene Sharpr-MPRA regulatory region 12277 Neighboring gene NANOG hESC enhancer GRCh37_chr10:4912837-4913364 Neighboring gene aldo-keto reductase family 1 member C6, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr10.185 Neighboring gene Sharpr-MPRA regulatory region 2775 Neighboring gene uncharacterized LOC124902365 Neighboring gene uncharacterized LOC101928051 Neighboring gene CRISPRi-validated cis-regulatory element chr10.193 Neighboring gene aldo-keto reductase family 1 member C2 Neighboring gene uncharacterized LOC107984198 Neighboring gene uncharacterized LOC124902366 Neighboring gene aldo-keto reductase family 1 member C3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (15 hits/1158 screens)

    EBI GWAS Catalog

    Description
    The genetic architecture of economic and political preferences.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC8954

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity  
    enables 3beta-hydroxy-5beta-steroid dehydrogenase activity  
    enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity  
    enables aldo-keto reductase (NADPH) activity PubMed 
    enables aldose reductase (NADPH) activity  
    enables aldose reductase (NADPH) activity PubMed 
    enables androstan-3-alpha,17-beta-diol dehydrogenase activity  
    enables androsterone dehydrogenase (B-specific) activity PubMed 
    enables androsterone dehydrogenase activity  
    enables bile acid binding  
    enables bile acid binding PubMed 
    enables carboxylic acid binding PubMed 
    enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity  
    enables indanol dehydrogenase activity  
    enables ketosteroid monooxygenase activity  
    enables ketosteroid monooxygenase activity PubMed 
    enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor PubMed 
    enables protein binding PubMed 
    enables steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor  
    enables testosterone 17-beta-dehydrogenase (NADP+) activity  
    enables testosterone dehydrogenase [NAD(P)+] activity  
    enables trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity PubMed 
    Process Evidence Code Pubs
    involved_in bile acid and bile salt transport PubMed 
    involved_in bile acid metabolic process PubMed 
    involved_in cellular response to jasmonic acid stimulus PubMed 
    involved_in cholesterol homeostasis PubMed 
    involved_in daunorubicin metabolic process  
    involved_in daunorubicin metabolic process PubMed 
    involved_in digestion PubMed 
    involved_in doxorubicin metabolic process  
    involved_in doxorubicin metabolic process PubMed 
    involved_in epithelial cell differentiation PubMed 
    involved_in intestinal cholesterol absorption PubMed 
    involved_in positive regulation of reactive oxygen species metabolic process PubMed 
    involved_in progesterone metabolic process  
    involved_in progesterone metabolic process PubMed 
    involved_in prostaglandin metabolic process  
    involved_in response to organophosphorus PubMed 
    involved_in retinal metabolic process PubMed 
    involved_in retinoid metabolic process  
    involved_in xenobiotic metabolic process PubMed 
    involved_in xenobiotic metabolic process  
    Component Evidence Code Pubs
    is_active_in cytosol  
    located_in cytosol PubMed 
    located_in cytosol  
    located_in extracellular exosome PubMed 

    General protein information

    Preferred Names
    aldo-keto reductase family 1 member C1
    Names
    20 alpha-hydroxysteroid dehydrogenase
    aldo-keto reductase C
    chlordecone reductase homolog HAKRC
    dihydrodiol dehydrogenase 1
    dihydrodiol dehydrogenase 1/2
    dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase
    hepatic dihydrodiol dehydrogenase
    high-affinity hepatic bile acid-binding protein
    indanol dehydrogenase
    trans-1,2-dihydrobenzene-1,2-diol dehydrogenase
    type II 3-alpha-hydroxysteroid dehydrogenase
    NP_001344.2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001353.6 → NP_001344.2  aldo-keto reductase family 1 member C1

      See identical proteins and their annotated locations for NP_001344.2

      Status: REVIEWED

      Source sequence(s)
      AL713867, BC040210, CB119749, M86609
      Consensus CDS
      CCDS7061.1
      UniProtKB/Swiss-Prot
      P52896, Q04828, Q5SR15, Q7M4N2, Q9UCX2
      Related
      ENSP00000370254.4, ENST00000380872.9
      Conserved Domains (1) summary
      cd19108
      Location:6 → 308
      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
      4963415..4983283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      4963746..4983614
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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