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Aliases for ITPK1 Gene

Aliases for ITPK1 Gene

  • Inositol-Tetrakisphosphate 1-Kinase 2 3 5
  • Inositol 1,3,4-Trisphosphate 5/6-Kinase 3 4
  • Inositol 1,3,4-Triphosphate 5/6 Kinase 2 3
  • Inositol-Triphosphate 5/6-Kinase 3 4
  • Ins(1,3,4)P(3) 5/6-Kinase 3 4
  • Inositol 1,3,4-Trisphosphate 5/6 Kinase 3
  • EC 2.7.1.134 4
  • EC 2.7.1.159 4
  • ITRPK1 3

External Ids for ITPK1 Gene

Previous GeneCards Identifiers for ITPK1 Gene

  • GC14M090910
  • GC14M087219
  • GC14M091393
  • GC14M091394
  • GC14M092473
  • GC14M093403
  • GC14M073584

Summaries for ITPK1 Gene

GeneCards Summary for ITPK1 Gene

ITPK1 (Inositol-Tetrakisphosphate 1-Kinase) is a Protein Coding gene. Diseases associated with ITPK1 include neural tube defects. Among its related pathways are Platelet activation, signaling and aggregation and Metabolism. GO annotations related to this gene include magnesium ion binding and inositol tetrakisphosphate 1-kinase activity.

UniProtKB/Swiss-Prot for ITPK1 Gene

  • Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3. Phosphorylates Ins(3,4,5,6)P4 at position 1 to form Ins(1,3,4,5,6)P5. This reaction is thought to have regulatory importance, since Ins(3,4,5,6)P4 is an inhibitor of plasma membrane Ca(2+)-activated Cl(-) channels, while Ins(1,3,4,5,6)P5 is not. Also phosphorylates Ins(1,3,4)P3 on O-5 and O-6 to form Ins(1,3,4,6)P4, an essential molecule in the hexakisphosphate (InsP6) pathway. Also acts as an inositol polyphosphate phosphatase that dephosphorylate Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 to Ins(1,3,4)P3, and Ins(1,3,4,5,6)P5 to Ins(3,4,5,6)P4. May also act as an isomerase that interconverts the inositol tetrakisphosphate isomers Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 in the presence of ADP and magnesium. Probably acts as the rate-limiting enzyme of the InsP6 pathway. Modifies TNF-alpha-induced apoptosis by interfering with the activation of TNFRSF1A-associated death domain.

Gene Wiki entry for ITPK1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITPK1 Gene

Genomics for ITPK1 Gene

Regulatory Elements for ITPK1 Gene

Promoters for ITPK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITPK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ITPK1 Gene

Chromosome:
14
Start:
92,936,914 bp from pter
End:
93,116,320 bp from pter
Size:
179,407 bases
Orientation:
Minus strand

Genomic View for ITPK1 Gene

Genes around ITPK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITPK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITPK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITPK1 Gene

Proteins for ITPK1 Gene

  • Protein details for ITPK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13572-ITPK1_HUMAN
    Recommended name:
    Inositol-tetrakisphosphate 1-kinase
    Protein Accession:
    Q13572
    Secondary Accessions:
    • Q9BTL6
    • Q9H2E7

    Protein attributes for ITPK1 Gene

    Size:
    414 amino acids
    Molecular mass:
    45621 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer. Interacts with GPS1/COPS1.

    Three dimensional structures from OCA and Proteopedia for ITPK1 Gene

    Alternative splice isoforms for ITPK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITPK1 Gene

Proteomics data for ITPK1 Gene at MOPED

Post-translational modifications for ITPK1 Gene

  • Acetylation by EP300 and CREBBP destabilizes ITPK1, and down-regulates enzymatic activity. Deacetylated by SIRT1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ITPK1 Gene

Domains & Families for ITPK1 Gene

Protein Domains for ITPK1 Gene

Suggested Antigen Peptide Sequences for ITPK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13572

UniProtKB/Swiss-Prot:

ITPK1_HUMAN :
  • Contains 1 ATP-grasp domain.
  • Belongs to the ITPK1 family.
Domain:
  • Contains 1 ATP-grasp domain.
Family:
  • Belongs to the ITPK1 family.
genes like me logo Genes that share domains with ITPK1: view

No data available for Gene Families for ITPK1 Gene

Function for ITPK1 Gene

Molecular function for ITPK1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.3 uM for Ins(1,3,4)P3 {ECO:0000269 PubMed:11042108}; KM=0.1 uM for Ins(3,4,5,6)P4 {ECO:0000269 PubMed:11042108}; Vmax=320 pmol/min/ug enzyme with Ins(1,3,4)P3 as substrate {ECO:0000269 PubMed:11042108}; Vmax=780 pmol/min/ug enzyme enzyme with Ins(3,4,5,6)P4 as substrate {ECO:0000269 PubMed:11042108};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1D-myo-inositol 3,4,5,6-tetrakisphosphate = ADP + 1D-myo-inositol 1,3,4,5,6-pentakisphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1D-myo-inositol 1,3,4-trisphosphate = ADP + 1D-myo-inositol 1,3,4,5-tetrakisphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1D-myo-inositol 1,3,4-trisphosphate = ADP + 1D-myo-inositol 1,3,4,6-tetrakisphosphate.
UniProtKB/Swiss-Prot Function:
Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3. Phosphorylates Ins(3,4,5,6)P4 at position 1 to form Ins(1,3,4,5,6)P5. This reaction is thought to have regulatory importance, since Ins(3,4,5,6)P4 is an inhibitor of plasma membrane Ca(2+)-activated Cl(-) channels, while Ins(1,3,4,5,6)P5 is not. Also phosphorylates Ins(1,3,4)P3 on O-5 and O-6 to form Ins(1,3,4,6)P4, an essential molecule in the hexakisphosphate (InsP6) pathway. Also acts as an inositol polyphosphate phosphatase that dephosphorylate Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 to Ins(1,3,4)P3, and Ins(1,3,4,5,6)P5 to Ins(3,4,5,6)P4. May also act as an isomerase that interconverts the inositol tetrakisphosphate isomers Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 in the presence of ADP and magnesium. Probably acts as the rate-limiting enzyme of the InsP6 pathway. Modifies TNF-alpha-induced apoptosis by interfering with the activation of TNFRSF1A-associated death domain.

Enzyme Numbers (IUBMB) for ITPK1 Gene

Gene Ontology (GO) - Molecular Function for ITPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0003824 catalytic activity TAS 8662638
GO:0016853 isomerase activity IEA --
GO:0047325 inositol tetrakisphosphate 1-kinase activity IEA,TAS --
GO:0052659 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity TAS --
genes like me logo Genes that share ontologies with ITPK1: view
genes like me logo Genes that share phenotypes with ITPK1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ITPK1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ITPK1 Gene

Localization for ITPK1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITPK1 Gene COMPARTMENTS Subcellular localization image for ITPK1 gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 2

Gene Ontology (GO) - Cellular Components for ITPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with ITPK1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ITPK1 Gene

Pathways & Interactions for ITPK1 Gene

genes like me logo Genes that share pathways with ITPK1: view

Interacting Proteins for ITPK1 Gene

Gene Ontology (GO) - Biological Process for ITPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021915 neural tube development IEA --
GO:0032957 inositol trisphosphate metabolic process IEA --
GO:0043647 inositol phosphate metabolic process TAS --
genes like me logo Genes that share ontologies with ITPK1: view

No data available for SIGNOR curated interactions for ITPK1 Gene

Drugs & Compounds for ITPK1 Gene

(2) Drugs for ITPK1 Gene - From: HMDB

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

(7) Additional Compounds for ITPK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1D-Myo-inositol 1,3,4,6-tetrakisphosphate
  • 1D-Myo-inositol 1,3,4,6-tetrakisphosphate
  • D-Myo-inositol 1,3,4,5-tetrakis-*phosphate potass
  • D-Myo-inositol 1,3,4,6-tetrakisphosphate
  • D-Myo-Inositol-1,3,4,5-tetrakisphosphate octapotassium salt
  • Inositol 1,3,4,6-tetrakisphosphate
110298-84-5
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
D-Myo-inositol 3,4,5,6-tetrakisphosphate
  • 1D-Myo-Inositol 3,4,5,6-tetrakisphosphate
  • D-Myo-Inositol, 3,4,5,6-tetrakis(dihydrogen phosphate)
  • Inositol 3,4,5,6-tetrakisphosphate
112791-61-4
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
Inositol 1,3,4,5-tetraphosphate
  • 1,3,4,5-Tetrakis(dihydrogen phosphate) myo-Inositol
  • 1D-Myo-inositol 1,3,4,5-tetrakis(dihydrogen phosphate)
  • 1D-Myo-inositol 1,3,4,5-tetrakisphosphate
  • D-Myo-inositol 1,3,4,5-tetrakisphosphate
  • Inositol 1,3,4,5-tetrakis(phosphate)
102850-29-3
genes like me logo Genes that share compounds with ITPK1: view

Transcripts for ITPK1 Gene

Unigene Clusters for ITPK1 Gene

Inositol-tetrakisphosphate 1-kinase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITPK1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:

Relevant External Links for ITPK1 Gene

GeneLoc Exon Structure for
ITPK1
ECgene alternative splicing isoforms for
ITPK1

Expression for ITPK1 Gene

mRNA expression in normal human tissues for ITPK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ITPK1 Gene

This gene is overexpressed in Monocytes (9.0) and Spinal cord (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ITPK1 Gene



SOURCE GeneReport for Unigene cluster for ITPK1 Gene Hs.308122

mRNA Expression by UniProt/SwissProt for ITPK1 Gene

Q13572-ITPK1_HUMAN
Tissue specificity: Expressed in brain > heart > skeletal muscle = kidney = pancreas = liver = placenta > lung. In brain, it is expressed in cerebellum, cerebral cortex, medulla, spinal cord, occipital lobe, frontal lobe, temporal lobe and putamen.
genes like me logo Genes that share expression patterns with ITPK1: view

Protein tissue co-expression partners for ITPK1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ITPK1 Gene

Orthologs for ITPK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ITPK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITPK1 36
  • 95 (a)
OneToOne
ITPK1 35
  • 96.46 (n)
  • 93.96 (a)
cow
(Bos Taurus)
Mammalia ITPK1 36
  • 92 (a)
OneToOne
ITPK1 35
  • 91.71 (n)
  • 93.72 (a)
dog
(Canis familiaris)
Mammalia ITPK1 35
  • 90.58 (n)
  • 94.2 (a)
ITPK1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itpk1 16
Itpk1 36
  • 93 (a)
OneToOne
Itpk1 35
  • 88.24 (n)
  • 93.96 (a)
oppossum
(Monodelphis domestica)
Mammalia ITPK1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITPK1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itpk1 35
  • 89.05 (n)
  • 94.2 (a)
chicken
(Gallus gallus)
Aves ITPK1 35
  • 77.64 (n)
  • 84.28 (a)
ITPK1 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITPK1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itpk1 35
  • 74.06 (n)
  • 81.87 (a)
zebrafish
(Danio rerio)
Actinopterygii itpk1 36
  • 64 (a)
OneToMany
ITPK1 (2 of 2) 36
  • 72 (a)
OneToMany
LOC100148744 35
  • 71.86 (n)
  • 73.12 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G33770 35
  • 42.82 (n)
  • 33.9 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1337 36
  • 41 (a)
OneToOne
Species with no ortholog for ITPK1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ITPK1 Gene

ENSEMBL:
Gene Tree for ITPK1 (if available)
TreeFam:
Gene Tree for ITPK1 (if available)

Paralogs for ITPK1 Gene

Pseudogenes.org Pseudogenes for ITPK1 Gene

genes like me logo Genes that share paralogs with ITPK1: view

No data available for Paralogs for ITPK1 Gene

Variants for ITPK1 Gene

Sequence variations from dbSNP and Humsavar for ITPK1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs4117 -- 93,052,753(+) GGAAA(C/G)AGCCC intron-variant
rs769014 -- 93,099,741(-) GGTGG(A/G)AAGCT intron-variant
rs11446 -- 92,940,903(-) TCCTC(C/T)GGGCC intron-variant, utr-variant-3-prime
rs13316 -- 92,940,956(+) CAGAC(A/C)CCAGC intron-variant, utr-variant-3-prime
rs1077125 -- 93,010,747(+) GCCAC(A/G)GTGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ITPK1 Gene

Variant ID Type Subtype PubMed ID
nsv902200 CNV Loss 21882294
nsv1400 CNV Loss 18451855
nsv902201 CNV Loss 21882294
nsv902202 CNV Loss 21882294
nsv902203 CNV Loss 21882294
nsv456401 CNV Loss 19166990
nsv470657 CNV Gain 18288195
nsv470656 CNV Loss 18288195
nsv517691 CNV Loss 19592680
nsv456402 CNV Loss 19166990
nsv902204 CNV Loss 21882294
esv2674911 CNV Deletion 23128226
nsv85386 CNV Loss 16902084
nsv1401 CNV Loss 18451855
nsv1402 CNV Insertion 18451855
esv29164 CNV Gain 19812545
nsv827028 CNV Gain 20364138
esv26978 CNV Loss 19812545

Variation tolerance for ITPK1 Gene

Residual Variation Intolerance Score: 19.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITPK1 Gene

HapMap Linkage Disequilibrium report
ITPK1
Human Gene Mutation Database (HGMD)
ITPK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITPK1 Gene

Disorders for ITPK1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ITPK1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neural tube defects
  • spina bifida
- elite association - COSMIC cancer census association via MalaCards
Search ITPK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ITPK1

Genetic Association Database (GAD)
ITPK1
Human Genome Epidemiology (HuGE) Navigator
ITPK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITPK1
genes like me logo Genes that share disorders with ITPK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITPK1 Gene

Publications for ITPK1 Gene

  1. Multitasking in signal transduction by a promiscuous human Ins(3,4,5,6)P(4) 1-kinase/Ins(1,3,4)P(3) 5/6-kinase. (PMID: 11042108) Yang X. … Shears S.B. (Biochem. J. 2000) 2 3 4 67
  2. Integration of inositol phosphate signaling pathways via human ITPK1. (PMID: 17616525) Chamberlain P.P. … Spraggon G. (J. Biol. Chem. 2007) 3 23
  3. Isolation of inositol 1,3,4-trisphosphate 5/6-kinase, cDNA cloning and expression of the recombinant enzyme. (PMID: 8662638) Wilson M.P. … Majerus P.W. (J. Biol. Chem. 1996) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for ITPK1 Gene

Sources for ITPK1 Gene

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