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    AKR1C3 aldo-keto reductase family 1 member C3 [ Homo sapiens (human) ]

    Gene ID: 8644, updated on 4-Jan-2025

    Summary

    Official Symbol
    AKR1C3provided by HGNC
    Official Full Name
    aldo-keto reductase family 1 member C3provided by HGNC
    Primary source
    HGNC:HGNC:386
    See related
    Ensembl:ENSG00000196139 MIM:603966; AllianceGenome:HGNC:386
    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
    DD3; DDX; PGFS; HAKRB; HAKRe; HA1753; HSD17B5; hluPGFS
    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 reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Broad expression in duodenum (RPKM 122.7), gall bladder (RPKM 91.1) and 15 other tissues See more
    Orthologs
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    Genomic context

    See AKR1C3 in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (5048781..5107686)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (5049294..5108188)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5090973..5149878)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902365 Neighboring gene aldo-keto reductase family 1 member C1 Neighboring gene uncharacterized LOC101928051 Neighboring gene aldo-keto reductase family 1 member C2 Neighboring gene CRISPRi-validated cis-regulatory element chr10.193 Neighboring gene uncharacterized LOC107984198 Neighboring gene uncharacterized LOC124902366 Neighboring gene Sharpr-MPRA regulatory region 11333 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 aldo-keto reductase family 1 member C4 Neighboring gene ARF like GTPase 4A pseudogene 3

    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

    EBI GWAS Catalog

    Description
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • KIAA0119

    Gene Ontology Provided by GOA

    Items 1 - 25 of 27
    Function Evidence Code Pubs
    enables 15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity PubMed 
    enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity  
    enables Delta4-3-oxosteroid 5beta-reductase activity PubMed 
    enables aldo-keto reductase (NADPH) activity PubMed 
    enables aldo-keto reductase (NADPH) activity  
    enables aldose reductase (NADPH) activity  
    enables aldose reductase (NADPH) activity PubMed 
    enables all-trans-retinol dehydrogenase (NAD+) activity PubMed 
    enables all-trans-retinol dehydrogenase (NADP+) activity  
    enables androstan-3-alpha,17-beta-diol dehydrogenase activity  
    enables androsterone dehydrogenase activity  
    enables androsterone dehydrogenase activity PubMed 
    enables bile acid binding  
    enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity  
    enables geranylgeranyl reductase activity PubMed 
    enables ketoreductase activity PubMed 
    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 prostaglandin D2 11-ketoreductase activity  
    enables prostaglandin F synthase activity  
    enables prostaglandin H2 endoperoxidase reductase activity  
    enables protein binding PubMed 
    enables retinal dehydrogenase activity PubMed 
    enables testosterone 17-beta-dehydrogenase (NADP+) activity  
    enables testosterone dehydrogenase (NAD+) activity  
    enables testosterone dehydrogenase [NAD(P)+] activity PubMed 
    Items 1 - 25 of 27
    Items 1 - 25 of 36
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway PubMed 
    involved_in cellular response to calcium ion PubMed 
    involved_in cellular response to corticosteroid stimulus PubMed 
    involved_in cellular response to jasmonic acid stimulus PubMed 
    involved_in cellular response to prostaglandin D stimulus PubMed 
    involved_in cellular response to prostaglandin stimulus PubMed 
    involved_in cellular response to starvation PubMed 
    involved_in cyclooxygenase pathway  
    involved_in daunorubicin metabolic process  
    involved_in daunorubicin metabolic process PubMed 
    involved_in doxorubicin metabolic process  
    involved_in doxorubicin metabolic process PubMed 
    involved_in farnesol catabolic process PubMed 
    involved_in keratinocyte differentiation PubMed 
    involved_in macromolecule metabolic process PubMed 
    involved_in male gonad development PubMed 
    involved_in negative regulation of retinoic acid biosynthetic process PubMed 
    involved_in positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of endothelial cell apoptotic process PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction 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 prostaglandin metabolic process PubMed 
    involved_in prostaglandin metabolic process PubMed 
    involved_in regulation of retinoic acid receptor signaling pathway PubMed 
    involved_in regulation of testosterone biosynthetic process PubMed 
    involved_in renal absorption PubMed 
    involved_in response to nutrient PubMed 
    involved_in retinal metabolic process PubMed 
    involved_in retinoid metabolic process  
    involved_in retinol metabolic process  
    involved_in steroid metabolic process PubMed 
    involved_in testosterone biosynthetic process PubMed 
    Items 1 - 25 of 36
    Component Evidence Code Pubs
    located_in cytoplasm PubMed 
    is_active_in cytosol  
    located_in cytosol  
    located_in extracellular exosome PubMed 
    located_in nucleus PubMed 

    General protein information

    Preferred Names
    aldo-keto reductase family 1 member C3
    Names
    3-alpha hydroxysteroid dehydrogenase, type II
    3-alpha-HSD type II, brain
    chlordecone reductase homolog HAKRb
    dihydrodiol dehydrogenase 3
    dihydrodiol dehydrogenase X
    indanol dehydrogenase
    prostaglandin F synthase
    testosterone 17-beta-dehydrogenase 5
    trans-1,2-dihydrobenzene-1,2-diol dehydrogenase
    type IIb 3-alpha hydroxysteroid dehydrogenase
    NP_001240837.1
    NP_001240838.1
    NP_003730.4

    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.

    Genomic

    1. NG_047094.1 RefSeqGene

      Range
      50649..63921
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001253908.2NP_001240837.1  aldo-keto reductase family 1 member C3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is the same length as isoform 1 but differs by 1 aa in the N-terminus.
      Source sequence(s)
      BC019230, BG547635, H79159
      Consensus CDS
      CCDS73062.1
      UniProtKB/TrEMBL
      A0A0A0MSS8, Q2XPP3
      Related
      ENSP00000401327.3, ENST00000439082.7
      Conserved Domains (2) summary
      COG0656
      Location:9305
      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]
    2. NM_001253909.2NP_001240838.1  aldo-keto reductase family 1 member C3 isoform 3

      See identical proteins and their annotated locations for NP_001240838.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons at its 3' end, which extends into an intron compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK296701, AL391427
      UniProtKB/TrEMBL
      B4DKT3
      Related
      ENST00000480697.6
      Conserved Domains (2) summary
      COG0656
      Location:8134
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
      COG0667
      Location:17119
      Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
    3. NM_003739.6NP_003730.4  aldo-keto reductase family 1 member C3 isoform 1

      See identical proteins and their annotated locations for NP_003730.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes one of the larger isoforms (1).
      Source sequence(s)
      AV761799, BC019230
      Consensus CDS
      CCDS7063.1
      UniProtKB/Swiss-Prot
      A8K2V0, B4DL37, P42330, Q5T2L1, Q96DJ1, Q96KI8, Q99530, Q9UCX1, Q9UII3, Q9UKL9
      UniProtKB/TrEMBL
      Q2XPP3
      Related
      ENSP00000369927.3, ENST00000380554.5
      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
      5048781..5107686
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      5049294..5108188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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