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 fo... See more...

Aliases for DCXR Gene

Aliases for DCXR Gene

  • Dicarbonyl And L-Xylulose Reductase 2 3 5
  • Dicarbonyl/L-Xylulose Reductase 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 20C Member 1 3 4
  • Kidney Dicarbonyl Reductase 3 4
  • Sperm Surface Protein P34H 3 4
  • Carbonyl Reductase II 3 4
  • L-Xylulose Reductase 3 4
  • EC 1.1.1.10 4 52
  • SDR20C1 3 4
  • XR 3 4
  • Short Chain Dehydrogenase/Reductase Family 20C, Member 1 2
  • Epididymis Secretory Sperm Binding Protein 3
  • Carbonyl Reductase 2 3
  • EC 1.1.1 52
  • HCRII 3
  • KIDCR 3
  • PNTSU 3
  • KiDCR 4
  • HCR2 3
  • P34H 3
  • DCR 3

External Ids for DCXR Gene

Previous GeneCards Identifiers for DCXR Gene

  • GC17M079417
  • GC17M9J0035
  • GC17M080529
  • GC17M077587
  • GC17M079993
  • GC17M075394

Summaries for DCXR Gene

Entrez Gene Summary for DCXR Gene

  • 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]

GeneCards Summary for DCXR Gene

DCXR (Dicarbonyl And L-Xylulose Reductase) is a Protein Coding gene. Diseases associated with DCXR include Pentosuria and Acute Inflammation Of Lacrimal Passage. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor.

UniProtKB/Swiss-Prot Summary for DCXR Gene

  • Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L-xylulose. Participates in the uronate cycle of glucose metabolism. May play a role in the water absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby preventing osmolytic stress from occurring in the renal tubules.

Additional gene information for DCXR Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DCXR Gene

Genomics for DCXR Gene

GeneHancer (GH) Regulatory Elements for DCXR Gene

Promoters and enhancers for DCXR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DCXR on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DCXR

Top Transcription factor binding sites by QIAGEN in the DCXR gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • NF-kappaB1
  • PPAR-gamma1
  • STAT3

Genomic Locations for DCXR Gene

Genomic Locations for DCXR Gene
chr17:82,035,136-82,037,709
(GRCh38/hg38)
Size:
2,574 bases
Orientation:
Minus strand
chr17:79,993,012-79,995,608
(GRCh37/hg19)
Size:
2,597 bases
Orientation:
Minus strand

Genomic View for DCXR Gene

Genes around DCXR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCXR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCXR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCXR Gene

Proteins for DCXR Gene

  • Protein details for DCXR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z4W1-DCXR_HUMAN
    Recommended name:
    L-xylulose reductase
    Protein Accession:
    Q7Z4W1
    Secondary Accessions:
    • Q9BTZ3
    • Q9UHY9

    Protein attributes for DCXR Gene

    Size:
    244 amino acids
    Molecular mass:
    25913 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for DCXR Gene

neXtProt entry for DCXR Gene

Selected DME Specific Peptides for DCXR Gene

Q7Z4W1:
  • WSDPHKAK
  • QPFLEVTKEA
  • LVTGAGKGIGR
  • RIPLGKFAEV
  • ELGPHKIRVN
  • VNPTVVMT
  • IARGVPGAIVNVSSQ

Post-translational modifications for DCXR Gene

  • Ubiquitination at Lys161 and Lys171
  • Modification sites at PhosphoSitePlus

Domains & Families for DCXR Gene

Gene Families for DCXR Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for DCXR Gene

Blocks:
  • Short-chain dehydrogenase/reductase SDR
  • Glucose/ribitol dehydrogenase family signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DCXR Gene

GenScript: Design optimal peptide antigens:
  • Sperm surface protein P34H (DCXR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z4W1

UniProtKB/Swiss-Prot:

DCXR_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with DCXR: view

Function for DCXR Gene

Molecular function for DCXR Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L-xylulose. Participates in the uronate cycle of glucose metabolism. May play a role in the water absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby preventing osmolytic stress from occurring in the renal tubules.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + xylitol = H(+) + L-xylulose + NADPH; Xref=Rhea:RHEA:17025, ChEBI:CHEBI:15378, ChEBI:CHEBI:17151, ChEBI:CHEBI:17399, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.10; Evidence=. ;.

Enzyme Numbers (IUBMB) for DCXR Gene

Phenotypes From GWAS Catalog for DCXR Gene

Gene Ontology (GO) - Molecular Function for DCXR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004090 carbonyl reductase (NADPH) activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016614 oxidoreductase activity, acting on CH-OH group of donors IEA --
GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA 19442656
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with DCXR: view
genes like me logo Genes that share phenotypes with DCXR: view

Animal Models for DCXR Gene

MGI Knock Outs for DCXR:
  • Dcxr Dcxr<tm1.1(KOMP)Vlcg>

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DCXR Gene

Localization for DCXR Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCXR Gene

Membrane; Peripheral membrane protein. Note=Probably recruited to membranes via an interaction with phosphatidylinositol. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DCXR gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
nucleus 4
mitochondrion 3
cytosol 3
extracellular 2
peroxisome 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCXR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005881 cytoplasmic microtubule IDA 23264731
GO:0005886 plasma membrane TAS --
GO:0005902 microvillus IEA --
GO:0005903 brush border IEA --
genes like me logo Genes that share ontologies with DCXR: view

Pathways & Interactions for DCXR Gene

genes like me logo Genes that share pathways with DCXR: view

Pathways by source for DCXR Gene

Gene Ontology (GO) - Biological Process for DCXR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005997 xylulose metabolic process IDA 11882650
GO:0006006 glucose metabolic process IDA,IEA 11882650
GO:0006739 NADP metabolic process IEA --
GO:0019640 glucuronate catabolic process to xylulose 5-phosphate TAS --
genes like me logo Genes that share ontologies with DCXR: view

No data available for SIGNOR curated interactions for DCXR Gene

Drugs & Compounds for DCXR Gene

(5) Drugs for DCXR Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved, Investigational Pharma Target 0
NADP Experimental Pharma Target 0
Xylitol Experimental, Investigational Pharma 0
Dihydrogenphosphate Experimental Pharma Target 0

(10) Additional Compounds for DCXR Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
L-Threo-2-pentulose
  • L-Lyxulose
  • L-threo-Pent-2-ulose
  • L-threo-Pentulose
  • L-Xul
  • L-Xylulose
527-50-4
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with DCXR: view

Transcripts for DCXR Gene

mRNA/cDNA for DCXR Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DCXR Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b
SP1: - -
SP2: -
SP3:
SP4: - -
SP5: - - -
SP6:

Relevant External Links for DCXR Gene

GeneLoc Exon Structure for
DCXR

Expression for DCXR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DCXR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DCXR Gene

This gene is overexpressed in Liver (x13.2).

Protein differential expression in normal tissues from HIPED for DCXR Gene

This gene is overexpressed in Liver, secretome (36.1) and Liver (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DCXR Gene



Protein tissue co-expression partners for DCXR Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DCXR

SOURCE GeneReport for Unigene cluster for DCXR Gene:

Hs.9857

mRNA Expression by UniProt/SwissProt for DCXR Gene:

Q7Z4W1-DCXR_HUMAN
Tissue specificity: Highly expressed in kidney, liver and epididymis. In the epididymis, it is mainly expressed in the proximal and distal sections of the corpus region. Weakly or not expressed in brain, lung, heart, spleen and testis.

Evidence on tissue expression from TISSUES for DCXR Gene

  • Liver(4.8)
  • Lung(4.5)
  • Blood(4.4)
  • Adrenal gland(4.3)
  • Kidney(3.5)
  • Nervous system(3.5)
  • Muscle(3.3)
  • Intestine(3.1)
  • Skin(2.6)
  • Stomach(2.6)
  • Heart(2.4)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DCXR Gene

Germ Layers:
  • mesoderm
Systems:
  • urinary
Regions:
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns with DCXR: view

Orthologs for DCXR Gene

This gene was present in the common ancestor of animals.

Orthologs for DCXR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCXR 31 30
  • 98.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DCXR 31 30
  • 86.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DCXR 31 30
  • 83.68 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dcxr 17 31 30
  • 82.85 (n)
rat
(Rattus norvegicus)
Mammalia Dcxr 30
  • 82.72 (n)
oppossum
(Monodelphis domestica)
Mammalia DCXR 31
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DCXR 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves DCXR 31 30
  • 70.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DCXR 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dcxr 30
  • 65.16 (n)
MGC76093 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.6390 30
zebrafish
(Danio rerio)
Actinopterygii dcxr 31 30
  • 65.85 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7322 31 32 30
  • 56.22 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008502 30
  • 54.11 (n)
worm
(Caenorhabditis elegans)
Secernentea dhs-21 31 30
  • 52.18 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToOne
Species where no ortholog for DCXR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DCXR Gene

ENSEMBL:
Gene Tree for DCXR (if available)
TreeFam:
Gene Tree for DCXR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DCXR: view image

Paralogs for DCXR Gene

(5) SIMAP similar genes for DCXR Gene using alignment to 8 proteins:

  • DCXR_HUMAN
  • J3KRZ4_HUMAN
  • J3KS22_HUMAN
  • J3KSZ5_HUMAN
  • J3QL34_HUMAN
  • J3QRQ2_HUMAN
  • J3QS36_HUMAN
  • J3QS45_HUMAN
genes like me logo Genes that share paralogs with DCXR: view

No data available for Paralogs for DCXR Gene

Variants for DCXR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DCXR Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
711695 Benign: not provided 82,037,555(-) G/A INTRON_VARIANT
rs375243154 Affects: Essential pentosuria 82,037,630(-) C/T SPLICE_DONOR_VARIANT
rs747887427 Affects: Essential pentosuria 82,036,238(-) TG/T FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for DCXR Gene

Structural Variations from Database of Genomic Variants (DGV) for DCXR Gene

Variant ID Type Subtype PubMed ID
esv21913 CNV gain+loss 19812545
nsv428351 CNV gain 18775914
nsv457975 CNV loss 19166990
nsv457976 CNV gain 19166990
nsv470620 CNV loss 18288195
nsv576183 CNV loss 21841781
nsv576186 CNV loss 21841781
nsv576187 CNV gain 21841781
nsv952392 CNV deletion 24416366

Variation tolerance for DCXR Gene

Residual Variation Intolerance Score: 78.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.37; 41.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCXR Gene

Human Gene Mutation Database (HGMD)
DCXR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCXR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCXR Gene

Disorders for DCXR Gene

MalaCards: The human disease database

(44) MalaCards diseases for DCXR Gene - From: OMIM, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DCXR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DCXR_HUMAN
  • Pentosuria (PNTSU) [MIM:260800]: An inborn error of metabolism characterized by excessive urinary excretion of L-xylulose. {ECO:0000269 PubMed:11882650, ECO:0000269 PubMed:22042873, ECO:0000269 PubMed:4392213}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DCXR

genes like me logo Genes that share disorders with DCXR: view

No data available for Genatlas for DCXR Gene

Publications for DCXR Gene

  1. Molecular characterization of mammalian dicarbonyl/L-xylulose reductase and its localization in kidney. (PMID: 11882650) Nakagawa J … Kitamura K (The Journal of biological chemistry 2002) 2 3 4 23 54
  2. Crystal structure of human L-xylulose reductase holoenzyme: probing the role of Asn107 with site-directed mutagenesis. (PMID: 15103634) El-Kabbani O … Hara A (Proteins 2004) 3 4 23 54
  3. [Molecular cloning of human sperm surface protein P34H gene and semi-quantitative analysis of its expression in testis and epididymidis]. (PMID: 12680326) Xia XY … Huang YF (Zhonghua nan ke xue = National journal of andrology 2003) 3 4 23 54
  4. Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. (PMID: 22042873) Pierce SB … Motulsky AG (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 54
  5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 54

Products for DCXR Gene

Sources for DCXR Gene