1. Gene
  2. SHPK - sedoheptulokinase Gene

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

FGGY_N: FGGY family of carbohydrate kinases, N-terminal domain (7 - 263)

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  • 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

Orthologs Information

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