SHPK - sedoheptulokinase Gene

Also Known as SHK; CARKL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23729

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA
enables sedoheptulokinase activity	IDA IDA: Inferred from direct assay	19413330	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in carbohydrate metabolic process	IDA IDA: Inferred from direct assay	19413330	GOA
involved in cellular response to lipopolysaccharide	IDA IDA: Inferred from direct assay	22682222	GOA
involved in phosphorylation	IDA IDA: Inferred from direct assay	19413330	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SHPK Protein Structure

FGGY_N

0
100
200
300
400
478 a.a.

Protein Preferred Names	Protein Names
sedoheptulokinase	carbohydrate kinase-like protein

SHPK Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SHPK	Q9UHJ6	TRAF3	Homo sapiens	Q13114	Anti Tag CoIP	28514442
Intra	SHPK	Q9UHJ6	TRAF3	Homo sapiens	Q13114	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SHPK Proteins

Cat. No.	상품명	Accession	Purity
HY-P71308	CARKL Protein, Human (HEK293, His)	Q9UHJ6 (M1-S478)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P75602	CARKL Protein, Human (sf9)	Q9UHJ6 (A2-S478)	≥ 85%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS12881	SHPK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19381	Shpk Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25873	Shpk Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

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