DCXR
L-xylulose reductase
Also known as: DCR, DCXR_HUMAN, HCR2, KIDCR, P34H, SDR20C1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q7Z4W1
- Gene
- DCXR
- Ensembl
- ENSG00000169738
- Chromosome
- 17
- Canonical length
- 244 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Microtubules
- Quaternary structure
- Homotetramer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
244 residues, UniProt reviewed canonical sequence.
>Q7Z4W1|DCXR
1 MELFLAGRRV LVTGAGKGIG RGTVQALHAT GARVVAVSRT QADLDSLVRE CPGIEPVCVD
61 LGDWEATERA LGSVGPVDLL VNNAAVALLQ PFLEVTKEAF DRSFEVNLRA VIQVSQIVAR
121 GLIARGVPGA IVNVSSQCSQ RAVTNHSVYC STKGALDMLT KVMALELGPH KIRVNAVNPT
181 VVMTSMGQAT WSDPHKAKTM LNRIPLGKFA EVEHVVNAIL FLLSDRSGMT TGSTLPVEGG
241 FWACLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DCXR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 1,924 nTPM
Expression across tissuesHPA
Tissue
- liver: 1,924 nTPM
- epididymis: 265 nTPM
- kidney: 224 nTPM
- skeletal muscle: 191 nTPM
- stomach: 169 nTPM
- midbrain: 147 nTPM
Single-cell type
- hepatocytes: 4,222 nCPM
- epididymal principal cells: 1,490 nCPM
- breast lactating cells: 1,054 nCPM
- epididymal efferent duct absorptive cells: 674 nCPM
- extravillous trophoblasts: 620 nCPM
- parietal cells: 534 nCPM
Immune cell
- myeloid DC: 152 nTPM
- plasmacytoid DC: 122 nTPM
- naive CD4 T-cell: 118 nTPM
- total PBMC: 110 nTPM
- NK-cell: 109 nTPM
- naive B-cell: 100 nTPM
Brain region
- thalamus: 103 nTPM
- pons: 100 nTPM
- cerebellum: 93 nTPM
- hypothalamus: 90 nTPM
- medulla oblongata: 88 nTPM
- midbrain: 85 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DCXR.
Disease | AllUniProt
Conditions DCXR is implicated in, by any mechanism.
- Pentosuria (PNTSU) MIM:260800
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 49 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Essential pentosuria
- DCXR-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.49
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.12
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- D-glucuronate catabolic process to D-xylulose 5-phosphate
- D-xylose metabolic process
- glucose metabolic process
- NADP+ metabolic process
- positive regulation of reactive oxygen species metabolic process
- xylulose metabolic process
Molecular functions
- carbonyl reductase (NADPH) activity
- identical protein binding
- oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor
- L-xylulose reductase (NADPH) activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DCXR as an antibody target. Whether an autoantibody or antibody against DCXR could matter depends on whether native DCXR is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DCXR is annotated at the cell surface, where native DCXR is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DCXR as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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