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

Summary

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; AllianceGenome:HGNC:18985
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]
Expression: Biased expression in liver (RPKM 345.1), kidney (RPKM 158.4) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (82035858..82037697, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (82903016..82904855, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (79993734..79995573, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DCXR promotes cell proliferation by promoting the activity of aerobic glycolysis in breast cancer.
Title: DCXR promotes cell proliferation by promoting the activity of aerobic glycolysis in breast cancer.
Ureaplasma urealyticum infection may affect the level of P34H protein expression on spermatozoa
Title: The effect of Ureaplasma urealyticum on the level of P34H expression, the activity of hyaluronidase, and DNA fragmentation in human spermatozoa.
identification of DCXR as an enzyme activity mediating chemical redox cycling suggests that it may be important in generating cytotoxic reactive oxygen species in the lung
Title: Diacetyl/l-Xylulose Reductase Mediates Chemical Redox Cycling in Lung Epithelial Cells.
Low expression of DCXR is associated with hepatocellular carcinoma.
Title: Low expression of DCXR protein indicates a poor prognosis for hepatocellular carcinoma patients.
EGCG is a potential inhibitor to human DCXR.
Title: (-)-Epigallocatechin-3-gallate, a potential inhibitor to human dicarbonyl/L-xylulose reductase.
combined frequency of the two mutant DCXR alleles in 1,067 Ashkenazi Jewish controls was 0.0173, suggesting a pentosuria frequency of approximately one in 3,300 in this population
Title: Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.
The action of human XR may be regulated by cellular redox conditions through reversible disulfide-bond formation and by S-cysteinylation.
Title: Structure/function analysis of a critical disulfide bond in the active site of L-xylulose reductase.
DCXR trranfected into mice may function in the removal of renal alpha-dicarbonyl compounds under oxidative circumstances, but it is not sufficient to suppress acute renal fibrosis.
Title: Suppression of renal alpha-dicarbonyl compounds generated following ureteral obstruction by kidney-specific alpha-dicarbonyl/L-xylulose reductase.
DCXR overexpression has the potential to be an additional useful biomarker for prostate cancer.
Title: Dicarbonyl/L-xylulose reductase: a potential biomarker identified by laser-capture microdissection-micro serial analysis of gene expression of human prostate adenocarcinoma.
A significant proportion of men investigated for male infertility may be epididymal protein P34H deficient.
Title: Epididymal P34H protein deficiency in men evaluated for infertility.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Essential pentosuria MedGen: C0268162 OMIM: 260800 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31983 (e-PCR)
- UniSTS:73289

RH11648 (e-PCR)
- UniSTS:47352

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-xylulose reductase (NADPH) activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-xylulose reductase (NADPH) activity	IDA Inferred from Direct Assay more info	PubMed
enables L-xylulose reductase (NADPH) activity	TAS Traceable Author Statement more info
enables carbonyl reductase (NADPH) activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in D-glucuronate catabolic process to D-xylulose 5-phosphate	IEA Inferred from Electronic Annotation more info
involved_in D-xylose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in NADP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in glucose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glucose metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xylulose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in xylulose metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in brush border	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in microvillus	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
located_in nucleus	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: L-xylulose reductase

Names: carbonyl reductase 2; carbonyl reductase II; dicarbonyl/L-xylulose reductase; epididymis secretory sperm binding protein; human carbonyl reductase 2; kidney dicarbonyl reductase; short chain dehydrogenase/reductase family 20C member 1; sperm surface protein P34H

NP_001182147.1

EC 1.1.1.10

NP_057370.1

EC 1.1.1.10

NCBI Reference Sequences (RefSeq)

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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

NG_027681.1 RefSeqGene

Range

5001..6840

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001195218.1 → NP_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/TrEMBL

J3KS22

Related

ENSP00000462272.1, ENST00000582900.5

Conserved Domains (2) summary

PRK07060
Location:6 → 241

PRK07060; short chain dehydrogenase; Provisional

cd05351
Location:1 → 242

XR_like_SDR_c; xylulose reductase-like, classical (c) SDRs
NM_016286.4 → NP_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)

AC137723, AF113123, BG434209

Consensus CDS

CCDS11799.1

UniProtKB/Swiss-Prot

Q7Z4W1, Q9BTZ3, Q9UHY9

UniProtKB/TrEMBL

A0A384NY14, J3KS22

Related

ENSP00000303356.2, ENST00000306869.7

Conserved Domains (1) summary

cd05351
Location:1 → 244

XR_like_SDR_c; xylulose reductase-like, classical (c) SDRs