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    DCXR dicarbonyl and L-xylulose reductase [ Homo sapiens (human) ]

    Gene ID: 51181, updated on 4-Jan-2025

    Summary

    Official Symbol
    DCXRprovided by HGNC
    Official Full Name
    dicarbonyl and L-xylulose reductaseprovided by HGNC
    Primary source
    HGNC:HGNC:18985
    See related
    Ensembl:ENSG00000169738 MIM:608347; AllianceGenome:HGNC:18985
    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
    XR; DCR; HCR2; P34H; HCRII; KIDCR; PNTSU; SDR20C1
    Summary
    The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]
    Expression
    Biased expression in liver (RPKM 345.1), kidney (RPKM 158.4) and 7 other tissues See more
    Orthologs
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    Genomic context

    See DCXR in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82035858..82037697, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82903016..82904855, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79993734..79995573, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79981231-79982154 Neighboring gene leucine rich repeat containing 45 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79987649-79988172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9183 Neighboring gene Rac family small GTPase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9184 Neighboring gene DCXR divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80009332-80010001 Neighboring gene RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Neighboring gene G protein pathway suppressor 1

    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

    Associated conditions

    Description Tests
    Essential pentosuria
    MedGen: C0268162 OMIM: 260800 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in brush border  
    located_in cytoplasmic microtubule PubMed 
    located_in cytosol  
    located_in extracellular exosome PubMed 
    located_in microvillus  
    located_in mitochondrion PubMed 
    located_in nucleus PubMed 
    located_in plasma membrane  

    General protein information

    Preferred Names
    L-xylulose reductase
    Names
    carbonyl reductase 2
    carbonyl reductase II
    dicarbonyl/L-xylulose reductase
    epididymis secretory sperm binding protein
    human carbonyl reductase 2
    kidney dicarbonyl reductase
    short chain dehydrogenase/reductase family 20C member 1
    sperm surface protein P34H
    NP_001182147.1
    NP_057370.1

    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_027681.1 RefSeqGene

      Range
      5001..6840
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195218.1NP_001182147.1  L-xylulose reductase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 2 aa shorter compared to isoform 1.
      Source sequence(s)
      AF113123, AV653537, BG434209
      UniProtKB/TrEMBL
      J3KS22
      Related
      ENSP00000462272.1, ENST00000582900.5
      Conserved Domains (2) summary
      PRK07060
      Location:6241
      PRK07060; short chain dehydrogenase; Provisional
      cd05351
      Location:1242
      XR_like_SDR_c; xylulose reductase-like, classical (c) SDRs
    2. NM_016286.4NP_057370.1  L-xylulose reductase isoform 1

      See identical proteins and their annotated locations for NP_057370.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC137723, AF113123, BG434209
      Consensus CDS
      CCDS11799.1
      UniProtKB/Swiss-Prot
      Q7Z4W1, Q9BTZ3, Q9UHY9
      UniProtKB/TrEMBL
      A0A384NY14, J3KS22
      Related
      ENSP00000303356.2, ENST00000306869.7
      Conserved Domains (1) summary
      cd05351
      Location:1244
      XR_like_SDR_c; xylulose reductase-like, classical (c) SDRs

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      82035858..82037697 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82903016..82904855 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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