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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
  • EC 1.1.1.10 4 61
  • SDR20C1 3 4
  • KIDCR 3 4
  • XR 3 4
  • Short Chain Dehydrogenase/Reductase Family 20C, Member 1 2
  • L-Xylulose Reductase 3
  • Carbonyl Reductase 2 3
  • EC 1.1.1 61
  • HCRII 3
  • PNTSU 3
  • 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 Porphyrin and chlorophyll metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor. An important paralog of this gene is DHRS4.

UniProtKB/Swiss-Prot 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCXR Gene

Genomics for DCXR Gene

Regulatory Elements for DCXR Gene

Enhancers for DCXR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G082036 1.2 ENCODE 34.1 +0.5 520 2.3 HDGF HNRNPUL1 PKNOX1 FOXA2 CREB3L1 MLX AGO1 ZFP64 ARID4B SIN3A DCXR ARL16 TSPAN10 ENSG00000262049 RFNG ENSG00000279372
GH17G082095 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -64.1 -64078 13.5 MLX CREB3L1 AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 CCDC57 ARL16 DCXR TSPAN10 ENSG00000262049 RFNG DUS1L HEXDC GCGR OXLD1
GH17G082021 1.4 ENCODE dbSUPER 16.6 +14.9 14917 3.2 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF207 ZNF143 FOS CENPX ENSG00000262049 DCXR HGS ENSG00000265678 OGFOD3 NARF-IT1 ARL2BPP9 ENSG00000262652 ENSG00000262663
GH17G082034 0.8 ENCODE 24.7 +2.8 2803 0.3 TBP AGO1 ZNF366 CREM THAP11 ZNF263 PAF1 SP3 TGIF2 ZFP69B DCXR ASPSCR1 RAC3 ENSG00000279372
GH17G082030 1.1 ENCODE 17.3 +6.4 6393 2.6 FOXA2 CREB3L1 MLX AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 DCXR ENSG00000262049 ENSG00000262663 ENSG00000262652 NARF-IT1 ARL2BPP9 OGFOD3 CENPX GCGR RAC3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DCXR on UCSC Golden Path with GeneCards custom track

Promoters for DCXR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000099524 232 1001 HDGF HNRNPUL1 PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for DCXR Gene

Chromosome:
17
Start:
82,035,136 bp from pter
End:
82,037,732 bp from pter
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 isoforms=161 and isoforms=171
  • Modification sites at PhosphoSitePlus

Domains & Families for DCXR Gene

Gene Families for DCXR Gene

Suggested Antigen Peptide Sequences for DCXR Gene

GenScript: Design optimal peptide antigens:

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 CatalyticActivity:
Xylitol + NADP(+) = L-xylulose + NADPH.
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.

Enzyme Numbers (IUBMB) for DCXR Gene

Gene Ontology (GO) - Molecular Function for DCXR Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0050038 L-xylulose reductase (NADP+) activity EXP,IDA 11882650
genes like me logo Genes that share ontologies with DCXR: view
genes like me logo Genes that share phenotypes with DCXR: view

Animal Model Products

miRNA for DCXR Gene

miRTarBase miRNAs that target DCXR

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , 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
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
mitochondrion 3
peroxisome 2
cytosol 2

Gene Ontology (GO) - Cellular Components for DCXR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 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 IEA,IDA 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 Pharma Target 0
2'-Monophosphoadenosine 5'-Diphosphoribose Experimental Pharma Target 0
Dihydrogenphosphate Ion Experimental Pharma Target 0
D-Xylitol Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
L-Threo-2-pentulose
  • L-Xylulose
527-50-4
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
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

Unigene Clusters for DCXR Gene

Dicarbonyl/L-xylulose reductase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
DCXR

Expression for DCXR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for DCXR Gene



Protein tissue co-expression partners for DCXR Gene

NURSA nuclear receptor signaling pathways regulating expression of DCXR Gene:

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(4.6)
  • Blood(4.4)
  • Adrenal gland(4.3)
  • Nervous system(3.5)
  • Kidney(3.3)
  • Muscle(3.3)
  • Intestine(2.8)
  • Stomach(2.6)
  • Skin(2.5)
  • Heart(2.4)

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

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

Primer Products

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 34 35
  • 98.63 (n)
dog
(Canis familiaris)
Mammalia DCXR 34 35
  • 86.87 (n)
cow
(Bos Taurus)
Mammalia DCXR 34 35
  • 83.68 (n)
mouse
(Mus musculus)
Mammalia Dcxr 34 16 35
  • 82.85 (n)
rat
(Rattus norvegicus)
Mammalia Dcxr 34
  • 82.72 (n)
oppossum
(Monodelphis domestica)
Mammalia DCXR 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DCXR 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves DCXR 34 35
  • 70.83 (n)
lizard
(Anolis carolinensis)
Reptilia DCXR 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dcxr 34
  • 65.16 (n)
MGC76093 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6390 34
zebrafish
(Danio rerio)
Actinopterygii dcxr 34 35
  • 65.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7322 36 34 35
  • 56.22 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008502 34
  • 54.11 (n)
worm
(Caenorhabditis elegans)
Secernentea dhs-21 34 35
  • 52.18 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for DCXR Gene

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

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

Variants for DCXR Gene

Sequence variations from dbSNP and Humsavar for DCXR Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs375243154 other 82,037,630(+) GCCCA(C/T)CTTTG splice-donor-variant
rs1000912707 -- 82,035,750(+) AGGCC(C/T)GAAAA downstream-variant-500B
rs1001417646 -- 82,036,052(+) CACCA(C/T)GTGCT reference, missense
rs1001616198 -- 82,035,430(+) CATTA(C/T)ATTGT downstream-variant-500B
rs1001775617 -- 82,035,534(+) TTGAC(A/G)TTCTC downstream-variant-500B

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)

Relevant External Links for DCXR Gene

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

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

Disorders for DCXR Gene

MalaCards: The human disease database

(24) MalaCards diseases for DCXR Gene - From: GeneTests, 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.

Relevant External Links for DCXR

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 2002) 2 3 4 22 64
  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 22 64
  3. Molecular cloning of human sperm surface protein P34H gene and semi- quantitative analysis of its expression in testis and epididymidis. (PMID: 12680326) Xia X.Y. … Huang Y.F. (Zhonghua Nan Ke Xue 2003) 3 4 22 64
  4. Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. (PMID: 22042873) Pierce S.B. … Motulsky A.G. (Proc. Natl. Acad. Sci. U.S.A. 2011) 3 4 64
  5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3 64

Products for DCXR Gene

Sources for DCXR Gene

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