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FLASH GENE
Symbol SHPK contributors: mct/npt - updated : 10-06-2008
HGNC name sedoheptulokinase
HGNC id 1492
Corresponding disease
SHPKD sedoheptulokinase deficiency
Location 17p13      Physical location : 3.511.555 - 3.539.616
Synonym name carbohydrate kinase-like
Synonym symbol(s) CARKL, SHK, FLJ32478
EC.number 2.7.1.14
DNA
TYPE functioning gene
SPECIAL FEATURE gene in gene
text within the telomeric end of a 57-kb deletion including the CTNS gene
STRUCTURE 28.00 kb     7 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 3838 51 478 - Wamelink (2008)
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver   highly
Endocrinepancreas   highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES basic
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • FGGY kinase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • phosphorylation of carbohydrates
  • responsible for the phosphoryltion of sedoheptulose to sedoheptulose monophosphate
  • may be a modifier for the cystinosis phenotype
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SHPKD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS