SHPK, Official Symbol SHPKprovided by HGNC Official Full Name sedoheptulokinaseprovided by HGNC Primary source HGNC:HGNC:1492 See related Ensembl:ENSG00000197417 MIM:605060; AllianceGenome:HGNC:1492 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SHK; CARKL Summary 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] Expression Ubiquitous expression in kidney (RPKM 7.3), duodenum (RPKM 6.9) and 25 other tissues See more Orthologs mouse all