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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 Sedoheptulokinase Deficiency and Cystinosis. Gene Ontology (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.

Additional gene information for SHPK Gene

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

Genomics for SHPK Gene

GeneHancer (GH) Regulatory Elements for SHPK Gene

Promoters and enhancers for SHPK Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I003634 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 556.1 +0.2 230 3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF207 CTNS SHPK ENSG00000262304 MYBBP1A TAX1BP3 LOC105371492 ANKFY1 EMC6 LOC100422717
GH17I003885 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.7 -254.2 -254214 10.9 HDGF PKNOX1 CLOCK ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B ZNF213 CAMKK1 ANKFY1 MYBBP1A PELP1 ENSG00000235085 LOC105371492 ZZEF1 P2RX1 SHPK NCBP3
GH17I003844 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.7 -209.6 -209622 2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 NCBP3 SHPK ZZEF1 ANKFY1 MYBBP1A PELP1 GC17P003828
GH17I004583 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 11.6 -950.3 -950270 6.3 PKNOX1 KLF17 SIN3A ZNF76 ZNF2 ZEB1 ZNF335 TCF12 GLIS2 SCRT2 SMTNL2 GGT6 RNU6-955P ALOX15 SHPK DERL2 VMO1 LINC01996
GH17I003944 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 11.7 -308.7 -308747 0.9 KLF1 ZNF777 ZNF837 KLF17 ZNF335 ZFHX2 GLIS2 POLR2A ZBTB48 PATZ1 P2RX1 CAMKK1 SHPK CYB5D2 ATP2A3 GC17P003938
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SHPK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SHPK gene promoter:

Genomic Locations for SHPK Gene

Genomic Locations for SHPK Gene
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 posLast=1818 and posLast=441441
  • 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

Gene Families for SHPK Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

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 TAS --
genes like me logo Genes that share ontologies with SHPK: view
genes like me logo Genes that share phenotypes with SHPK: view

Human Phenotype Ontology for SHPK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SHPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SHPK: view

Pathways & Interactions for SHPK Gene

No Data Available

Gene Ontology (GO) - Biological Process for SHPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IDA,TAS 19413330
GO:0006098 pentose-phosphate shunt TAS --
GO:0009052 pentose-phosphate shunt, non-oxidative branch ISS --
GO:0016310 phosphorylation IDA,IEA 19413330
GO:0035963 cellular response to interleukin-13 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
ATP Investigational Nutra Agonist 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:

CRISPR Products

Inhibitory RNA Products

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for SHPK Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Kidney(2.3)
  • Blood(2)
genes like me logo Genes that share expression patterns with SHPK: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.09 (n)
(Bos Taurus)
Mammalia SHPK 33
  • 87.52 (n)
  • 87 (a)
(Canis familiaris)
Mammalia SHPK 33 34
  • 86.44 (n)
(Mus musculus)
Mammalia Shpk 33 16 34
  • 85.19 (n)
(Rattus norvegicus)
Mammalia Shpk 33
  • 84.46 (n)
(Ornithorhynchus anatinus)
Mammalia SHPK 34
  • 72 (a)
(Gallus gallus)
Aves SHPK 33 34
  • 67.47 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia shpk 33
  • 62.88 (n)
Str.15434 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3996 33
(Danio rerio)
Actinopterygii shpk 33 34
  • 60.99 (n)
(Caenorhabditis elegans)
Secernentea CELE_T25C8.1 33
  • 42.36 (n)
T25C8.1 34
  • 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 Variation AA Info Type
rs1003434728 uncertain-significance, Cystinosis, Nephropathic cystinosis 3,636,632(-) T/C upstream_transcript_variant
rs111977802 likely-benign, Cystinosis, Nephropathic cystinosis 3,636,541(-) T/C upstream_transcript_variant
rs116000219 likely-benign, Nephropathic cystinosis, Cystinosis 3,636,842(-) A/G upstream_transcript_variant
rs11657606 likely-benign, Cystinosis, Nephropathic cystinosis 3,636,603(-) C/T upstream_transcript_variant
rs144071313 affects, Sedoheptulokinase deficiency 3,624,187(-) G/A/C coding_sequence_variant, missense_variant, stop_gained

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

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

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)

Additional Variant Information for SHPK Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, Orphanet, DISEASES, and GeneCards

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


  • Sedoheptulokinase deficiency (SHPKD) [MIM:617213]: 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. {ECO:0000269 PubMed:25647543}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SHPK

Genetic Association Database
Human Genome Epidemiology 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 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 MM … Wevers RA (Human mutation 2008) 2 3 4 22 58
  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 JW … Green ED (Genome research 2000) 2 3 4 22 58
  3. The sedoheptulose kinase CARKL directs macrophage polarization through control of glucose metabolism. (PMID: 22682222) Haschemi A … Wagner O (Cell metabolism 2012) 3 4 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Multi-ethnic genetic association study of carotid intima-media thickness using a targeted cardiovascular SNP microarray. (PMID: 19679847) Lanktree MB … Anand SS (Stroke 2009) 3 44 58

Products for SHPK Gene

Sources for SHPK Gene

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