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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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XYLB
xylulokinase
Chromosome 3 · 3p22.2
NCBI Gene: 9942Ensembl: ENSG00000093217.11HGNC: HGNC:12839UniProt: C9J0N9
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
D-xylulokinase activityxylulose metabolic processcytosolD-glucuronate catabolic process to D-xylulose 5-phosphateEpidermal Inclusion Cystdisorder of pilosebaceous unitsebaceous gland diseasechronic venous hypertension
✦AI Summary

XYLB encodes xylulokinase, an enzyme that catalyzes the phosphorylation of D-xylulose to D-xylulose 5-phosphate (Xu5P), playing a crucial role in pentose phosphate pathway metabolism 1. The gene consists of 18 exons spanning approximately 28 kb on chromosome 3.3 1. XYLB functions as a tumor suppressor by producing Xu5P, which enhances CD8+ T cell cytotoxicity and reduces lung colonization in cancer models 2. The Xu5P product promotes antitumor immunity by facilitating uptake into CD8+ T cells via SLC35E2 transporter, subsequently intensifying pentose phosphate pathway and glycolysis for energy balance 2. In intestinal fibrosis associated with Crohn's disease, XYLB activity generates Xu5P that promotes extracellular matrix synthesis through epigenetic upregulation of collagen transcription 3. The enzyme's activity is regulated by circPLCE1, which directly binds XYLB and competitively inhibits its enzymatic function 3. Clinically, elevated XYLB expression correlates with enhanced CD8+ T cell efficacy and reduced metastasis 2, while XYLB has been identified as a potential metabolism-related biomarker in osteosarcoma prognosis 4.

Sources cited
1
XYLB gene structure, location on chromosome 3p21.3, and protein homology to xylulokinase
PMID: 9763671
2
XYLB functions as tumor suppressor producing Xu5P that enhances CD8+ T cell cytotoxicity and clinical correlations
PMID: 40680740
3
XYLB role in intestinal fibrosis through Xu5P-mediated collagen synthesis and regulation by circPLCE1
PMID: 41390174
4
XYLB identified as potential metabolism-related biomarker in osteosarcoma prognosis
PMID: 40148931
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Epidermal Inclusion CystOpen Targets
0.39Weak
disorder of pilosebaceous unitOpen Targets
0.36Weak
sebaceous gland diseaseOpen Targets
0.32Weak
chronic venous hypertensionOpen Targets
0.28Weak
retinal degenerationOpen Targets
0.28Weak
atrial fibrillationOpen Targets
0.28Weak
atrial flutterOpen Targets
0.25Weak
Abruptio PlacentaeOpen Targets
0.24Weak
central nervous system infectionOpen Targets
0.05Suggestive
Adult-onset dystonia-parkinsonismOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
autosomal recessive Parkinson disease 14Open Targets
0.04Suggestive
Huntington disease-like syndrome due to C9ORF72 expansionsOpen Targets
0.03Suggestive
Huntington disease-like 2Open Targets
0.03Suggestive
episodic ataxia type 1Open Targets
0.03Suggestive
neuroferritinopathyOpen Targets
0.03Suggestive
atypical pantothenate kinase-associated neurodegenerationOpen Targets
0.03Suggestive
colorectal adenocarcinomaOpen Targets
0.02Suggestive
Brugada syndromeOpen Targets
0.02Suggestive
osteosarcomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SORDProtein interaction99%RPEProtein interaction98%SLC22A14Protein interaction96%RPEL1Protein interaction95%FUOMProtein interaction93%SLC22A13Protein interaction91%
Tissue Expression6 tissues
Liver
100%
Ovary
7%
Bone Marrow
7%
Brain
5%
Lung
3%
Heart
2%
Gene Interaction Network
Click a node to explore
XYLBSORDRPESLC22A14RPEL1FUOMSLC22A13
PROTEIN STRUCTURE
Preparing viewer…
PDB4BC3 · 1.68 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.70–1.05]
RankingsWhere XYLB stands among ~20K protein-coding genes
  • #13,572of 20,598
    Most Researched23
  • #10,583of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedXYLB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Xylulose 5-phosphate fosters sustained antitumor activity of progenitor-like exhausted SLC35E2
PMID: 40680740
Cell Metab · 2025
1.00
2
Fibroblast pentose phosphate pathway activation upon decreased circPLCE1 exacerbates intestinal fibrosis in Crohn's disease.
PMID: 41390174
Gut · 2025
0.90
3
Genomic structure of a novel human gene (XYLB) on chromosome 3p22-->p21.3 encoding a xylulokinase-like protein.
PMID: 9763671
Cytogenet Cell Genet · 1998
0.80
4
Klebsiella pneumoniae under xylose pressure: the growth adaptation, antimicrobial susceptibility, global proteomics analysis and role of XylA and XylB proteins.
PMID: 40301709
BMC Microbiol · 2025
0.70
5
Molecular and industrial aspects of glucose isomerase.
PMID: 8801434
Microbiol Rev · 1996
0.60