SHPK (Sedoheptulokinase) Gene
Key enzyme in the pentose phosphate pathway and cellular metabolism
Gene Information Card
| Symbol | SHPK |
|---|---|
| Full Name | Sedoheptulokinase |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 23729 ncbi.nlm.nih.gov/gene/23729 |
| Ensembl ID | ENSG00000108771 |
| UniProt ID | Q9UHJ6 |
| OMIM ID | 605060 |
| HGNC ID | 10849 |
| Aliases | CARKL, MGC138290, MGC138291 |
Description
SHPK encodes sedoheptulokinase, an enzyme that phosphorylates sedoheptulose to sedoheptulose-7-phosphate in the pentose phosphate pathway. It plays a role in carbohydrate metabolism and cellular redox balance. Mutations in SHPK are associated with sedoheptulokinase deficiency, a metabolic disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sedoheptulokinase deficiency | Loss-of-function mutations impair sedoheptulose phosphorylation, leading to accumulation of sedoheptulose and related metabolites. | OMIM #605060; PMID: 27474215 |
| Transaldolase deficiency (overlap) | SHPK deficiency may mimic transaldolase deficiency due to shared pentose phosphate pathway disruption. | PMID: 27474215 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Skeletal Muscle | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte cell line |
| HEK293 | 9.7 | Embryonic kidney cells |
| K562 | 7.4 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/start loss | Rare | Loss of function |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Reduced enzyme activity |
| c.200_201delAG | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations lead to reduced or absent sedoheptulokinase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • sedoheptulokinase activity (GO:0008973) |
| • phosphorylation (GO:0016310) | • pentose-phosphate shunt (GO:0006098) |
Pathways
• Pentose phosphate pathway (non-oxidative branch) - Reactome R-HSA-71336
• Carbohydrate metabolism - KEGG hsa00030
Protein Summary
Sedoheptulokinase is a 326-amino acid protein that catalyzes the ATP-dependent phosphorylation of sedoheptulose to sedoheptulose-7-phosphate. It is localized in the cytoplasm and is highly expressed in liver and kidney. Deficiency leads to accumulation of sedoheptulose and related sugar phosphates, causing a metabolic disorder with hepatomegaly and developmental delay.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SHPK Knockout HEK293 Cell Line | EDJ-KQ2813 | Human | 23729 | Details Get a Quote |
| SHPK Knockout A-549 Cell Line | EDJ-KQ23769 | Human | 23729 | Details Get a Quote |
| SHPK Knockout HCT 116 Cell Line | EDJ-KQ23770 | Human | 23729 | Details Get a Quote |
| SHPK Knockout HeLa Cell Line | EDJ-KQ23771 | Human | 23729 | Details Get a Quote |
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