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

    Gene ID: 51181, updated on 6-Sep-2017
    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; Vega:OTTHUMG00000178483
    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]
    Orthologs
    Location:
    17q25.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (82035881..82037697, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79993757..79995573, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 45 Neighboring gene Rac family small GTPase 3 Neighboring gene RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Neighboring gene G protein pathway suppressor 1 Neighboring gene dihydrouridine synthase 1 like

    • 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?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    D-xylose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    NADP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glucose metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucuronate catabolic process to xylulose 5-phosphate TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    xylulose metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    brush border IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    L-xylulose reductase
    Names
    carbonyl reductase 2
    carbonyl reductase II
    dicarbonyl/L-xylulose reductase
    kidney dicarbonyl reductase
    short chain dehydrogenase/reductase family 20C member 1
    sperm surface protein P34H
    NP_001182147.1
    NP_057370.1

    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..6817
      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/Swiss-Prot
      Q7Z4W1
      Related
      ENSP00000462272.1, OTTHUMP00000259531, ENST00000582900.5, OTTHUMT00000442158
      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_016286.3NP_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)
      AF113123, BG434209
      Consensus CDS
      CCDS11799.1
      UniProtKB/Swiss-Prot
      Q7Z4W1
      Related
      ENSP00000303356.2, OTTHUMP00000259529, ENST00000306869.6, OTTHUMT00000442153
      Conserved Domains (1) summary
      cd05351
      Location:1244
      XR_like_SDR_c; xylulose reductase-like, classical (c) SDRs

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      82035881..82037697 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      80079960..80081776 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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