DCXR (dicarbonyl and L-xylulose reductase)

Gene

• Entrez ID: 51181
• Gene name: Dicarbonyl and L-xylulose reductase
• Gene symbol: DCXR
• Synonyms (NCBI Gene): DCR, HCR2, HCRII, KIDCR, P34H, PNTSU, SDR20C1, XR
• Chromosome: 17
• Chromosome location: 17q25.3
• 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 re

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT037386	hsa-miR-744-5p	CLASH	23622248
MIRT928393	hsa-miR-1255b	CLIP-seq
MIRT928394	hsa-miR-3622b-5p	CLIP-seq
MIRT928395	hsa-miR-3675-5p	CLIP-seq
MIRT928396	hsa-miR-4283	CLIP-seq
MIRT928397	hsa-miR-4304	CLIP-seq
MIRT928398	hsa-miR-4489	CLIP-seq
MIRT928393	hsa-miR-1255b	CLIP-seq
MIRT928394	hsa-miR-3622b-5p	CLIP-seq
MIRT928395	hsa-miR-3675-5p	CLIP-seq
MIRT928397	hsa-miR-4304	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004090	Function	Carbonyl reductase (NADPH) activity	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005829	Component	Cytosol	IEA
GO:0005881	Component	Cytoplasmic microtubule	IDA	23264731
GO:0005886	Component	Plasma membrane	TAS
GO:0005902	Component	Microvillus	IEA
GO:0005903	Component	Brush border	IEA
GO:0005997	Process	Xylulose metabolic process	IBA
GO:0005997	Process	Xylulose metabolic process	IDA	11882650
GO:0005997	Process	Xylulose metabolic process	IEA
GO:0005997	Process	Xylulose metabolic process	IEA
GO:0006006	Process	Glucose metabolic process	IBA
GO:0006006	Process	Glucose metabolic process	IDA	11882650
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006739	Process	NADP+ metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016614	Function	Oxidoreductase activity, acting on CH-OH group of donors	IEA
GO:0016655	Function	Oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	IDA	19442656
GO:0019640	Process	D-glucuronate catabolic process to D-xylulose 5-phosphate	IEA
GO:0042732	Process	D-xylose metabolic process	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 31515488, 32296183
GO:0050038	Function	L-xylulose reductase (NADPH) activity	IBA
GO:0050038	Function	L-xylulose reductase (NADPH) activity	IDA	11882650
GO:0050038	Function	L-xylulose reductase (NADPH) activity	IEA
GO:0050038	Function	L-xylulose reductase (NADPH) activity	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	IDA	19442656

Other IDs

• MIM: 608347
• HGNC: 18985
• e!Ensembl: ENSG00000169738

Protein

• UniProt ID: Q7Z4W1
• Protein name: L-xylulose reductase (XR) (EC 1.1.1.10) (Carbonyl reductase II) (Dicarbonyl/L-xylulose reductase) (Kidney dicarbonyl reductase) (kiDCR) (Short chain dehydrogenase/reductase family 20C member 1) (Sperm surface protein P34H)
• Protein 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 osmoregulati
• PDB: 1PR9, 1WNT, 3D3W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13561	adh_short_C2	14 → 242		Domain

• Tissue specificity: 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. {ECO:0000269|PubMed
• Sequence:

  MELFLAGRRVLVTGAGKGIGRGTVQALHATGARVVAVSRTQADLDSLVRECPGIEPVCVD
  LGDWEATERALGSVGPVDLLVNNAAVALLQPFLEVTKEAFDRSFEVNLRAVIQVSQIVAR
  GLIARGVPGAIVNVSSQCSQRAVTNHSVYCSTKGALDMLTKVMALELGPHKIRVNAVNPT
  VVMTSMGQATWSDPHKAKTMLNRIPLGKFAEVEHVVNAILFLLSDRSGMTTGSTLPVEGG
  FWAC

• Sequence length: 244

Pathways

KEGG:

Pentose and glucuronate interconversions
Metabolic pathways

Reactome:

Formation of xylulose-5-phosphate
Essential pentosuria

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
DCXR-related disorder	Pathogenic	rs747887427	RCV004758639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Essential pentosuria	Pathogenic	rs747887427	RCV000087312	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	BEFREE	8055322		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	18086765		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	17301948, 19187965		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19187965		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30808011		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36077333	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16847567	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16847567		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16847567	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27658779	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	24136585		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31217356		★☆☆☆☆ Found in Text Mining only
Dacryocystitis	Dacryocystitis	BEFREE	28784098, 31822856		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31217356	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	20696760, 8055322, 8069651, 8188288, 8862630, 9299242		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	31237416, 36544206	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome, Partial Trisomy 21	Down Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	9299242		★☆☆☆☆ Found in Text Mining only
Excessive tearing	Excessive Tearing	BEFREE	28784098		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	9299242		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	21710610		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	24882558	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	7999986, 8055322, 8069651		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16847567		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16847567		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18086765		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	27819766		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30274786		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	7999986, 8055322, 8069651		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16847567, 26898607, 30274786		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	31527380		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	31217356	Inhibit	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26481697, 29069867, 29668619		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pentosuria	Pentosuria	ORPHANET_DG	22042873		★☆☆☆☆ Found in Text Mining only
Pentosuria	Pentosuria	Orphanet			★☆☆☆☆ Found in Text Mining only
Pentosuria	Pentosuria	GENOMICS_ENGLAND_DG	23988570		★☆☆☆☆ Found in Text Mining only
Pentosuria	Pentosuria	CTD_human_DG	25526675, 28595002		★☆☆☆☆ Found in Text Mining only
Pentosuria	Pentosuria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18086765		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18086765		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30274786		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30389402		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29805480		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	17301948		★☆☆☆☆ Found in Text Mining only
Trisomy 21, Meiotic Nondisjunction	Trisomy 21	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Trisomy 21, Mitotic Nondisjunction	Trisomy 21	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36562811	Associate	★☆☆☆☆ Found in Text Mining only