SHPK - sedoheptulokinase Gene

Homo sapiens

Also known as SHK; CARKL

Gene ID: 23729 | Gene type: protein coding

About SHPK

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:3,608,240-3,636,250 (from NCBI)

This gene has 1 transcript (splice variant), 184 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 7.3), duodenum (RPKM 6.9) and 25 other tissues.

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]

SHPK Products(1)

mRNA	Protein	Name
NM_013276.4	NP_037408.2	sedoheptulokinase

SHPK Protein Structure

FGGY_N

0
100
200
300
400
478 a.a.

Protein Preferred Names

Protein Names

sedoheptulokinase

carbohydrate kinase-like protein

Recombinant SHPK Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71308	CARKL Protein, Human (HEK293, His)	Q9UHJ6 (M1-S478)	≥95%
HY-P75602	CARKL Protein, Human (sf9)	Q9UHJ6 (A2-S478)	≥95%

Related Diseases

Diseases

Alias

Sedoheptulokinase Deficiency

Isolated Sedoheptulokinase Deficiency	SHPKD
Isolated Shpk Deficiency	Deficiency, Sedoheptulokinase

Cystinosis

Cystine Storage Disease	Cystine Diathesis
Cystine Disease	Cystinoses
Protein Defect Of Cystin Transport	Cystin Transport, Protein Defect Of
Nephropathic Cystinosis	Protein Defect Of Cystine Transport

Developmental And Epileptic Encephalopathy 24

DEE24	Epileptic Encephalopathy, Early Infantile, 24
Eiee24	Developmental And Epileptic Encephalopathy, 24
Early Infantile Epileptic Encephalopathy 24	Encephalopathy, Epileptic, Early Infantile, Type 24

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12881	SHPK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SHPK	RGD	RGD:1308004
Mus musculus	SHPK	MGD	MGI:1921887

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