SHPK

The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]

Sedoheptulokinase

Acts as a modulator of macrophage activation through control of glucose metabolism.

Biological Process carbohydrate metabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cellular response to interleukin-13ISS:UniProtKB
Biological Process cellular response to interleukin-4ISS:UniProtKB
Biological Process cellular response to lipopolysaccharideManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process glycerol metabolic processManual Assertion Based On ExperimentIBA:GO_Central
Biological Process pentose-phosphate shuntTAS:Reactome
Biological Process pentose-phosphate shunt, non-oxidative branchISS:UniProtKB
Biological Process phosphorylationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of inflammatory responseISS:UniProtKB
Biological Process regulation of macrophage activationISS:UniProtKB

Cytoplasm

Sedoheptulokinase deficiency (SHPKD):
An autosomal recessive metabolic disease characterized by increased urinary erythritol and sedoheptulose. Neonatal cholestasis, hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple contractures and dysmorphisms have been reported in SHPKD patients, but the relationship of these features to the SHPKD is unclear.