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Aliases for SHPK Gene

Aliases for SHPK Gene

  • Sedoheptulokinase 2 3 5
  • Carbohydrate Kinase-Like Protein 3 4
  • CARKL 3 4
  • SHK 3 4
  • Carbohydrate Kinase-Like 2
  • EC 2.7.1.14 4

External Ids for SHPK Gene

Previous HGNC Symbols for SHPK Gene

  • CARKL

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 carbohydrate metabolic disorder. 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

Genomic Location for SHPK Gene

Chromosome:
17
Start:
3,608,262 bp from pter
End:
3,636,322 bp from pter
Size:
28,061 bases
Orientation:
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:
    Q9UHJ6-SHPK_HUMAN
    Recommended name:
    Sedoheptulokinase
    Protein Accession:
    Q9UHJ6
    Secondary Accessions:
    • B2R640
    • Q8WUH3

    Protein attributes for SHPK Gene

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

neXtProt entry for SHPK Gene

Proteomics data for SHPK Gene at MOPED

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:

Antibody Products

No data available for DME Specific Peptides for SHPK Gene

Domains & Families for SHPK Gene

Protein Domains for SHPK Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SHPK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHJ6

UniProtKB/Swiss-Prot:

SHPK_HUMAN :
  • Belongs to the FGGY kinase family.
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

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

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SHPK Gene COMPARTMENTS Subcellular localization image for SHPK gene
Compartment Confidence
cytosol 1
extracellular 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for SHPK Gene

Pathways & Interactions for SHPK Gene

SuperPathways for SHPK Gene

No Data Available

Interacting Proteins for SHPK Gene

Gene Ontology (GO) - Biological Process for SHPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA,IDA 19413330
GO:0009052 pentose-phosphate shunt, non-oxidative branch ISS --
GO:0016310 phosphorylation IDA 19413330
GO:0035963 cellular response to interleukin-13 ISS --
GO:0071222 cellular response to lipopolysaccharide IDA 22682222
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
ADP
  • 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
2646-35-7
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
20298-95-7
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
83-86-3
Sedoheptulose
  • Altro-Heptulose
  • D-Altro-2-heptulose
  • D-Altro-hept-2-ulose
  • Volemulose
3019-74-7
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

Sedoheptulokinase:
Representative Sequences:

Inhibitory RNA 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
SHPK
ECgene alternative splicing isoforms for
SHPK

Expression for SHPK Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for SHPK Gene



SOURCE GeneReport for Unigene cluster for SHPK Gene Hs.579217

mRNA Expression by UniProt/SwissProt for SHPK Gene

Q9UHJ6-SHPK_HUMAN
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

Protein tissue co-expression partners for SHPK Gene

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia SHPK 35
  • 99.09 (n)
  • 99.16 (a)
SHPK 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CARKL 36
  • 87 (a)
OneToOne
SHPK 35
  • 87.52 (n)
  • 87.03 (a)
dog
(Canis familiaris)
Mammalia SHPK 35
  • 86.44 (n)
  • 87.71 (a)
SHPK 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Shpk 36
  • 87 (a)
OneToOne
Shpk 16
Shpk 35
  • 85.19 (n)
  • 86.95 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia SHPK 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shpk 35
  • 84.46 (n)
  • 85.81 (a)
chicken
(Gallus gallus)
Aves SHPK 36
  • 65 (a)
OneToOne
SHPK 35
  • 67.47 (n)
  • 65.36 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3996 35
tropical clawed frog
(Silurana tropicalis)
Amphibia shpk 35
  • 62.88 (n)
  • 62.45 (a)
Str.15434 35
zebrafish
(Danio rerio)
Actinopterygii shpk 36
  • 56 (a)
OneToOne
shpk 35
  • 60.99 (n)
  • 57.74 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_T25C8.1 35
  • 42.36 (n)
  • 34.64 (a)
T25C8.1 36
  • 29 (a)
OneToOne
Species with no ortholog for SHPK:
  • 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

ENSEMBL:
Gene Tree for SHPK (if available)
TreeFam:
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
rs150857 - 3,623,343(+) CGTCT(C/G/T)TACGT reference, missense
VAR_048591 -
VAR_048592 -
rs150856 -- 3,620,644(+) gaaac(C/T)tccgc intron-variant
rs150858 -- 3,629,376(+) ACCTC(C/T)GCACT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv526175 CNV Gain 19592680
nsv907565 CNV Loss 21882294
nsv516676 CNV Gain+Loss 19592680
nsv907568 CNV Loss 21882294
esv2662762 CNV Deletion 23128226
dgv358n27 CNV Loss 19166990
esv997341 CNV Deletion 20482838
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)

Relevant External Links for SHPK Gene

HapMap Linkage Disequilibrium report
SHPK
Human Gene Mutation Database (HGMD)
SHPK

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

Disorders for SHPK Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
isolated sedoheptulokinase deficiency
  • isolated shpk deficiency
carbohydrate metabolic disorder
  • disorder of carbohydrate transport and metabolism
cystinosis
  • 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)
SHPK
Human Genome Epidemiology (HuGE) Navigator
SHPK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SHPK
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 23 67
  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 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. The sedoheptulose kinase CARKL directs macrophage polarization through control of glucose metabolism. (PMID: 22682222) Haschemi A. … Wagner O. (Cell Metab. 2012) 3
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3

Products for SHPK Gene

Sources for SHPK Gene

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