Entity Details

Primary name SHPK_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UHJ6
EntryNameSHPK_HUMAN
FullNameSedoheptulokinase
TaxID9606
Evidenceevidence at protein level
Length478
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesSHPK

GO terms

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GOName
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005975 carbohydrate metabolic process
GO:0006098 pentose-phosphate shunt
GO:0009052 pentose-phosphate shunt, non-oxidative branch
GO:0016310 phosphorylation
GO:0016773 phosphotransferase activity, alcohol group as acceptor
GO:0035963 cellular response to interleukin-13
GO:0043030 regulation of macrophage activation
GO:0050277 sedoheptulokinase activity
GO:0050727 regulation of inflammatory response
GO:0071222 cellular response to lipopolysaccharide
GO:0071353 cellular response to interleukin-4

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR018484 Carbohydrate kinase, FGGY, N-terminalDomainDomain
IPR042027 SedoheptulokinaseFamilyFamily
IPR043129 ATPase, nucleotide binding domainFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617213 OMIMSedoheptulokinase deficiency (SHPKD)An autosomal recessive metabolic disease characterized by increased urinary erythritol and sedoheptulose. Neonatal cholestasis, hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple contractures and dysmorphisms have been reported in SHPKD patients, but the relationship of these features to the SHPKD is unclear. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
SHPK_HUMANMDM2_HUMANBioGRID, IntAct21988832 details