Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SHPK Gene

Aliases for SHPK Gene

  • Sedoheptulokinase 2 3 3 5
  • Carbohydrate Kinase-Like Protein 3 4
  • CARKL 3 4
  • SHK 3 4
  • Carbohydrate Kinase-Like 2
  • EC 4

External Ids for SHPK Gene

Previous HGNC Symbols for SHPK Gene


Previous GeneCards Identifiers for SHPK Gene

  • GC17M003459
  • GC17M003403
  • GC17M003514

Summaries for SHPK Gene

Entrez Gene Summary for SHPK Gene

  • 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]

GeneCards Summary for SHPK Gene

SHPK (Sedoheptulokinase) is a Protein Coding gene. Diseases associated with SHPK include Isolated Sedoheptulokinase Deficiency and Cystinosis. GO annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and sedoheptulokinase activity. An important paralog of this gene is ENSG00000262304.

UniProtKB/Swiss-Prot for SHPK Gene

  • Acts as a modulator of macrophage activation through control of glucose metabolism.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHPK Gene

Genomics for SHPK Gene

Regulatory Elements for SHPK Gene

Enhancers for SHPK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F003988 1.3 Ensembl ENCODE 11.6 -352.7 -352713 1.1 ATF1 PKNOX1 SIN3A GLI4 ZNF2 ZNF121 GLIS2 ZNF416 KLF7 ZNF548 OR1E2 OR3A4P OR1E3 OR1D3P OR1D2 OR1D5 SHPK LOC101927979 CYB5D2 ZZEF1
GH17F003657 1.1 Ensembl ENCODE 12.8 -23.2 -23212 4.1 HDGF PKNOX1 ZBTB40 GLIS2 ZNF207 ETV6 FOS CREM EGR2 ZNF263 CTNS SHPK P2RX5 TAX1BP3 LOC105371492 GC17P003667 GC17P003669 GC17P003666
GH17F003844 1.1 ENCODE 11.7 -209.6 -209623 2.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF416 LOC105371492 SHPK NCBP3 GC17P003828
GH17F003986 1 Ensembl 11.6 -350.4 -350379 1.0 ZNF133 SIN3A GLI4 FEZF1 ZNF2 ZNF121 GLIS2 ZNF302 KLF7 ZNF548 OR1E2 OR3A4P OR1D2 OR1E3 OR1D3P OR1D5 SHPK LOC105371492 CYB5D2 GC17M003989
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SHPK on UCSC Golden Path with GeneCards custom track

Genomic Location for SHPK Gene

3,608,262 bp from pter
3,636,322 bp from pter
28,061 bases
Minus strand

Genomic View for SHPK Gene

Genes around SHPK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHPK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHPK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHPK Gene

Proteins for SHPK Gene

  • Protein details for SHPK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R640
    • Q8WUH3

    Protein attributes for SHPK Gene

    478 amino acids
    Molecular mass:
    51491 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SHPK Gene

Post-translational modifications for SHPK Gene

  • Ubiquitination at Lys 18 and Lys 441
  • Modification sites at PhosphoSitePlus

Other Protein References for SHPK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SHPK Gene

Domains & Families for SHPK Gene

Protein Domains for SHPK Gene


Suggested Antigen Peptide Sequences for SHPK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FGGY kinase family.
  • Belongs to the FGGY kinase family.
genes like me logo Genes that share domains with SHPK: view

No data available for Gene Families for SHPK Gene

Function for SHPK Gene

Molecular function for SHPK Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.06 mM for sedoheptulose {ECO:0000269 PubMed:18186520}; pH dependence: Optimum pH is 8.5. {ECO:0000269 PubMed:18186520};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + sedoheptulose = ADP + sedoheptulose 7-phosphate.
UniProtKB/Swiss-Prot Function:
Acts as a modulator of macrophage activation through control of glucose metabolism.
UniProtKB/Swiss-Prot Induction:
Down-regulated by LPS.

Enzyme Numbers (IUBMB) for SHPK Gene

Gene Ontology (GO) - Molecular Function for SHPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016773 phosphotransferase activity, alcohol group as acceptor IEA --
GO:0050277 sedoheptulokinase activity IEA,IDA 19413330
genes like me logo Genes that share ontologies with SHPK: view
genes like me logo Genes that share phenotypes with SHPK: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SHPK Gene

Localization for SHPK Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHPK Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SHPK gene
Compartment Confidence
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SHPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS,IBA --
genes like me logo Genes that share ontologies with SHPK: view

Pathways & Interactions for SHPK Gene

No Data Available

Interacting Proteins for SHPK Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)
Selected Interacting proteins: ENSP00000225519 Q9UHJ6-SHPK_HUMAN for SHPK Gene via STRING IID

Gene Ontology (GO) - Biological Process for SHPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IDA 19413330
GO:0009052 pentose-phosphate shunt, non-oxidative branch ISS --
GO:0016310 phosphorylation IEA,IDA 19413330
GO:0035963 cellular response to interleukin-13 ISS --
GO:0043030 regulation of macrophage activation ISS --
genes like me logo Genes that share ontologies with SHPK: view

No data available for Pathways by source and SIGNOR curated interactions for SHPK Gene

Drugs & Compounds for SHPK Gene

(1) Drugs for SHPK Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(5) Additional Compounds for SHPK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
D-Sedoheptulose 7-phosphate
  • 7-(Dihydrogen phosphate) sedoheptulose
  • D-Sedoheptulose 7-phosphate
  • D-Sedoheptulose-7-p
  • D-Sedoheptulose-7-phosphate
  • Heptulose-7-phosphate
Inositol 1,3,4,5,6-pentakisphosphate
  • 1D-Myo-Inositol 1,3,4,5,6-pentakisphosphate
  • Inositol 1,3,4,5,6-pentaphosphate
  • Inositol pentaphosphate
  • Myo-Inositol 1,3,4,5,6-pentakis(phosphate)
  • Myo-Inositol 1,3,4,5,6-pentaphosphate
Myo-inositol hexakisphosphate
  • 1D-Myo-Inositol 1,2,3,4,5,6-hexakisphosphate
  • 1D-Myo-inositol hexakisphosphate
  • D-Myo-Inositol 1,2,3,4,5,6-hexakisphosphate
  • Inositol 1,2,3,4,5,6-hexakisphosphate
  • Myo-Inositol 1,2,3,4,5,6-hexakisphosphate
  • Altro-Heptulose
  • D-Altro-2-heptulose
  • D-Altro-hept-2-ulose
  • Volemulose
genes like me logo Genes that share compounds with SHPK: view

Transcripts for SHPK Gene

mRNA/cDNA for SHPK Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(121) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SHPK Gene

Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SHPK Gene

No ASD Table

Relevant External Links for SHPK Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SHPK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SHPK Gene

Protein differential expression in normal tissues from HIPED for SHPK Gene

This gene is overexpressed in Oral epithelium (6.5), Testis (6.4), and Fetal testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SHPK Gene

Protein tissue co-expression partners for SHPK Gene

NURSA nuclear receptor signaling pathways regulating expression of SHPK Gene:


SOURCE GeneReport for Unigene cluster for SHPK Gene:


mRNA Expression by UniProt/SwissProt for SHPK Gene:

Tissue specificity: Strongly expressed in liver, kidney and pancreas. Expressed at lower levels in placenta and heart. Very weakly expressed in lung and brain.
genes like me logo Genes that share expression patterns with SHPK: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SHPK Gene

Orthologs for SHPK Gene

This gene was present in the common ancestor of animals.

Orthologs for SHPK Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SHPK 34 35
  • 99.09 (n)
(Bos Taurus)
Mammalia SHPK 34
  • 87.52 (n)
  • 87 (a)
(Canis familiaris)
Mammalia SHPK 34 35
  • 86.44 (n)
(Mus musculus)
Mammalia Shpk 34 16 35
  • 85.19 (n)
(Rattus norvegicus)
Mammalia Shpk 34
  • 84.46 (n)
(Ornithorhynchus anatinus)
Mammalia SHPK 35
  • 72 (a)
(Gallus gallus)
Aves SHPK 34 35
  • 67.47 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia shpk 34
  • 62.88 (n)
Str.15434 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3996 34
(Danio rerio)
Actinopterygii shpk 34 35
  • 60.99 (n)
(Caenorhabditis elegans)
Secernentea CELE_T25C8.1 34
  • 42.36 (n)
T25C8.1 35
  • 29 (a)
Species where no ortholog for SHPK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SHPK Gene

Gene Tree for SHPK (if available)
Gene Tree for SHPK (if available)

Paralogs for SHPK Gene

Paralogs for SHPK Gene

genes like me logo Genes that share paralogs with SHPK: view

Variants for SHPK Gene

Sequence variations from dbSNP and Humsavar for SHPK Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10643273 -- 3,622,706(+) TTTTT(-/TT/TTT)GAGAC intron-variant
rs10712743 -- 3,625,007(+) TCAGA(-/T)TTTTT intron-variant
rs111345771 -- 3,617,257(+) CAAAC(A/G)GGCAT intron-variant
rs111475678 -- 3,623,346(+) CTCTA(C/T)GTTCC reference, missense
rs111534404 -- 3,631,724(+) CGCCA(C/T)GTTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SHPK Gene

Variant ID Type Subtype PubMed ID
nsv833342 CNV loss 17160897
nsv574237 CNV loss 21841781
nsv526175 CNV gain 19592680
nsv516676 CNV gain+loss 19592680
nsv1065489 CNV gain 25217958
nsv1060071 CNV loss 25217958
nsv1055740 CNV gain 25217958
esv997341 CNV deletion 20482838
esv3639752 CNV loss 21293372
esv3639749 CNV gain 21293372
esv3572354 CNV gain 25503493
esv2762588 CNV loss 21179565
esv2662762 CNV deletion 23128226
dgv882e212 CNV loss 25503493
dgv5423n54 CNV loss 21841781
dgv358n27 CNV loss 19166990
dgv3085n100 CNV loss 25217958

Variation tolerance for SHPK Gene

Residual Variation Intolerance Score: 49.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.91; 94.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SHPK Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHPK Gene

Disorders for SHPK Gene

MalaCards: The human disease database

(2) MalaCards diseases for SHPK Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
isolated sedoheptulokinase deficiency
  • isolated shpk deficiency
  • cystine storage disease
- elite association - COSMIC cancer census association via MalaCards
Search SHPK in MalaCards View complete list of genes associated with diseases

Relevant External Links for SHPK

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SHPK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SHPK Gene

Publications for SHPK Gene

  1. Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. (PMID: 18186520) Wamelink M.M. … Wevers R.A. (Hum. Mutat. 2008) 2 3 4 22 64
  2. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. (PMID: 10673275) Touchman J.W. … Green E.D. (Genome Res. 2000) 2 3 4 22 64
  3. The sedoheptulose kinase CARKL directs macrophage polarization through control of glucose metabolism. (PMID: 22682222) Haschemi A. … Wagner O. (Cell Metab. 2012) 3 4 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Multi-ethnic genetic association study of carotid intima-media thickness using a targeted cardiovascular SNP microarray. (PMID: 19679847) Lanktree M.B. … Anand S.S. (Stroke 2009) 3 46 64

Products for SHPK Gene

Sources for SHPK Gene

Loading form....