XYLB: Xylulokinase Gene
Gene encoding xylulokinase, involved in xylulose metabolism and the pentose phosphate pathway
Gene Information Card
| Symbol | XYLB |
|---|---|
| Full Name | Xylulokinase |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 9942 ncbi.nlm.nih.gov/gene/9942 |
| Ensembl ID | ENSG00000163827 |
| UniProt ID | O75191 |
| OMIM ID | 609177 |
| HGNC ID | 12839 |
| Aliases | DKFZp686C0220, MGC138290 |
Description
The XYLB gene encodes xylulokinase, an enzyme that catalyzes the phosphorylation of D-xylulose to D-xylulose 5-phosphate in the pentose phosphate pathway. This reaction is essential for the metabolism of xylulose and contributes to the non-oxidative phase of the pentose phosphate pathway, linking carbohydrate metabolism to nucleotide and amino acid biosynthesis. XYLB is expressed in various tissues and is implicated in metabolic disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pentose Phosphate Pathway Deficiency | Impaired xylulose phosphorylation leads to metabolic imbalance | ClinVar, OMIM |
| Hepatocellular Carcinoma | Altered expression may affect metabolic reprogramming | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.7 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| A549 | 5.1 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Reduced enzyme activity |
| c.245C>T | Nonsense | <0.01% | Premature truncation, loss of function |
| c.678G>A | Missense | 0.02% | Altered substrate binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish xylulokinase activity, impairing xylulose metabolism.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • xylulokinase activity | • ATP binding |
| • xylulose metabolic process | • pentose-phosphate shunt |
| • phosphorylation |
Pathways
• Pentose phosphate pathway (non-oxidative branch)
• Xylulose metabolism
Protein Summary
Xylulokinase (EC 2.7.1.17) is a 54 kDa enzyme that phosphorylates D-xylulose to D-xylulose 5-phosphate using ATP. It is a member of the FGGY family of carbohydrate kinases. The protein is localized in the cytoplasm and is involved in the non-oxidative phase of the pentose phosphate pathway, providing ribose-5-phosphate for nucleotide synthesis and NADPH for reductive biosynthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XYLB Knockout HEK293 Cell Line | EDJ-KQ6832 | Human | 9942 | Details Get a Quote |
| XYLB Knockout A-549 Cell Line | EDJ-KQ31370 | Human | 9942 | Details Get a Quote |
| XYLB Knockout HCT 116 Cell Line | EDJ-KQ31371 | Human | 9942 | Details Get a Quote |
| XYLB Knockout HeLa Cell Line | EDJ-KQ31372 | Human | 9942 | Details Get a Quote |
