Recombinant Human Sedoheptulokinase (SHPK)

Uniprot Id

Q9UHJ6

Target Species

Human

Target Name

SHPK

Target Full Name

Sedoheptulokinase

Target Function

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

Target Involvement

Sedoheptulokinase deficiency (SHPKD)

Target Subcellular Location

Cytoplasm.

Target Protein Families

FGGY kinase family

Target Tissue Specificity

Strongly expressed in liver, kidney and pancreas. Expressed at lower levels in placenta and heart. Very weakly expressed in lung and brain.

Target Synonyms

Carbohydrate kinase like; Carbohydrate kinase like protein ; Carbohydrate kinase-like protein; CARKL; Sedoheptulokinase; SHK; Shpk; SHPK_HUMAN

Target Background

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.