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]

Description

Sedoheptulokinase

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nuclear speckles

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

17 (3608240 - 3636250)

Ensembl ID

ENSG00000197417  (ver. 103.38)

Orthologs

-

UniProt

Q9UHJ6

neXtProt

NX_Q9UHJ6

Human splice variants

Protein structure