This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural... See more...

Aliases for ITPK1 Gene

Aliases for ITPK1 Gene

  • Inositol-Tetrakisphosphate 1-Kinase 2 3 4 5
  • Inositol 1,3,4-Trisphosphate 5/6-Kinase 3 4
  • Ins(1,3,4)P(3) 5/6-Kinase 3 4
  • Inositol 1,3,4-Triphosphate 5/6 Kinase 2
  • Inositol-Triphosphate 5/6-Kinase 4
  • EC 2.7.1.134 4
  • EC 2.7.1.159 4
  • ITRPK1 3
  • ITPK1 5

External Ids for ITPK1 Gene

Previous GeneCards Identifiers for ITPK1 Gene

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

Summaries for ITPK1 Gene

Entrez Gene Summary for ITPK1 Gene

  • This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]

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 superpathway of inositol phosphate compounds and Metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and inositol tetrakisphosphate 1-kinase activity.

UniProtKB/Swiss-Prot Summary 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 (PubMed:11909533, PubMed:12925536, PubMed:17616525). Plays an important role in MLKL-mediated necroptosis. Produces highly phosphorylated inositol phosphates such as inositolhexakisphosphate (InsP6) which bind to MLKL mediating the release of an N-terminal auto-inhibitory region leading to its activation. Essential for activated phospho-MLKL to oligomerize and localize to the cell membrane during necroptosis (PubMed:17616525).

Gene Wiki entry for ITPK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITPK1 Gene

Genomics for ITPK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ITPK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J093113 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 279.1 +1.7 1685 5.7 ZNF654 ZNF207 IKZF1 ZNF600 SSRP1 ZNF592 CEBPA ZNF10 POLR2A ZIC2 ITPK1 MOAP1 TMEM251 ITPK1-AS1 CHGA
GH14J093030 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 255.2 +81.6 81616 7.4 ZNF207 ZNF600 CEBPA ZIC2 MXD4 CEBPB DEK TRIM22 BHLHE40 ZNF341 ITPK1 ITPK1-AS1 BTBD7 CHGA lnc-MOAP1-3 lnc-MOAP1-2
GH14J093103 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 27.3 +10.4 10373 5.5 CEBPA YY1 CEBPB IRF2 GABPA RXRA EBF1 JUND CTCF SPI1 ITPK1 TMEM251 MOAP1 UNC79 ITPK1-AS1 CHGA
GH14J093001 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.5 +107.1 107119 12.8 NCOR1 ZNF600 ZNF10 ZIC2 HES1 BHLHE40 FEZF1 ZNF341 MNT MBD2 ITPK1 MOAP1 TMEM251 RIN3 UNC79 lnc-MOAP1-2 lnc-MOAP1-3 CHGA
GH14J093085 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 18.2 +29.9 29919 2.6 ZNF341 NR2C1 EBF1 NFE2 SPI1 BATF IKZF1 NR2F1 NR2F6 NFE2L2 ITPK1 ITPK1-AS1 CHGA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITPK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITPK1

Top Transcription factor binding sites by QIAGEN in the ITPK1 gene promoter:
  • aMEF-2
  • AML1a
  • Arnt
  • E4BP4
  • Evi-1
  • HNF-4alpha1
  • HNF-4alpha2
  • MEF-2A
  • Pax-4a

Genomic Locations for ITPK1 Gene

Latest Assembly
chr14:92,936,914-93,116,320
(GRCh38/hg38)
Size:
179,407 bases
Orientation:
Minus strand

Previous Assembly
chr14:93,403,259-93,582,270
(GRCh37/hg19 by Entrez Gene)
Size:
179,012 bases
Orientation:
Minus strand

chr14:93,403,259-93,582,665
(GRCh37/hg19 by Ensembl)
Size:
179,407 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr14(ALT_REF_LOCI_1):51,476-230,487 (-)

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

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

No data available for DME Specific Peptides for ITPK1 Gene

Domains & Families for ITPK1 Gene

Gene Families for ITPK1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ITPK1 Gene

Suggested Antigen Peptide Sequences for ITPK1 Gene

GenScript: Design optimal peptide antigens:
  • Inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1_HUMAN)
  • ITPK1 protein (Q8N3Y0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13572

UniProtKB/Swiss-Prot:

ITPK1_HUMAN :
  • Belongs to the ITPK1 family.
Family:
  • Belongs to the ITPK1 family.
genes like me logo Genes that share domains with ITPK1: view

Function for ITPK1 Gene

Molecular function for ITPK1 Gene

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 (PubMed:11909533, PubMed:12925536, PubMed:17616525). Plays an important role in MLKL-mediated necroptosis. Produces highly phosphorylated inositol phosphates such as inositolhexakisphosphate (InsP6) which bind to MLKL mediating the release of an N-terminal auto-inhibitory region leading to its activation. Essential for activated phospho-MLKL to oligomerize and localize to the cell membrane during necroptosis (PubMed:17616525).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 3,4,5,6-tetrakisphosphate + ATP = 1D-myo-inositol 1,3,4,5,6-pentakisphosphate + ADP + H(+); Xref=Rhea:RHEA:12452, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57539, ChEBI:CHEBI:57733, ChEBI:CHEBI:456216; EC=2.7.1.134;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,3,4-trisphosphate + ATP = 1D-myo-inositol 1,3,4,5-tetrakisphosphate + ADP + H(+); Xref=Rhea:RHEA:13253, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57895, ChEBI:CHEBI:58414, ChEBI:CHEBI:456216; EC=2.7.1.159;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,3,4-trisphosphate + ATP = 1D-myo-inositol 1,3,4,6-tetrakisphosphate + ADP + H(+); Xref=Rhea:RHEA:20940, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57660, ChEBI:CHEBI:58414, ChEBI:CHEBI:456216; EC=2.7.1.159;.
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 with Ins(3,4,5,6)P4 as substrate {ECO:0000269|PubMed:11042108};

Enzyme Numbers (IUBMB) for ITPK1 Gene

Phenotypes From GWAS Catalog for ITPK1 Gene

Gene Ontology (GO) - Molecular Function for ITPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0000825 inositol tetrakisphosphate 6-kinase activity IMP 29883610
GO:0003824 catalytic activity TAS 8662638
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ITPK1: view
genes like me logo Genes that share phenotypes with ITPK1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for ITPK1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
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 ITPK1 gene
Compartment Confidence
cytosol 4
plasma membrane 3
mitochondrion 3
nucleus 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ITPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
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

Gene Ontology (GO) - Biological Process for ITPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 8662638
GO:0007596 blood coagulation TAS --
GO:0016310 phosphorylation IEA --
GO:0021915 neural tube development IEA --
GO:0032957 inositol trisphosphate metabolic process IEA --
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
Magnesium Approved, Experimental, Investigational Pharma 0
ATP Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
D-myo-Inositol 1,3,4,6-tetrakisphosphate
  • 1D-Myo-inositol 1,3,4,6-tetrakisphosphate
  • Inositol 1,3,4,6-tetrakisphosphate
  • Inositol-1,3,4,6-tetrakisphosphate
  • Inositol-1,3,4,6-tetraphosphate
  • Ins-1,3,4,6-P4
110298-84-5
D-myo-Inositol 3,4,5,6-tetrakisphosphate
  • Inositol-3,4,5,6-tetraphosphate
  • Ins-3,4,5,6-P4
  • Myo-inositol-3,4,5,6-tetrakisphosphate
  • Inositol 3,4,5,6-tetrakisphosphate
  • Inositol-3,4,5,6-tetraphosphoric acid
112791-61-4
Inositol 1,3,4-trisphosphate
  • (1S,3S,4S)-1,3,4-TRIPHOSPHO-myo-inositol
  • D-Myo-inositol 1,3,4-trisphosphate
  • D-Myo-inositol 1,3,4-trisphosphoric acid
  • Inositol 1,3,4-trisphosphoric acid
  • 1,3,4-Itp
98102-63-7
myo-Inositol 1,3,4,5,6-pentakisphosphate
  • 1D-myo-Inositol 1,3,4,5,6-pentakisphosphate
  • D-myo-Inositol 1,3,4,5,6-pentakisphosphate
  • 1D-myo-Inositol 1,3,4,5,6-pentakisphosphoric acid
  • Inositol 1,3,4,5,6-pentakisphosphoric acid
  • D-myo-Inositol 1,3,4,5,6-pentakisphosphoric acid
20298-95-7
genes like me logo Genes that share compounds with ITPK1: view

Transcripts for ITPK1 Gene

mRNA/cDNA for ITPK1 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITPK1

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

Expression for ITPK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ITPK1 Gene



Protein tissue co-expression partners for ITPK1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITPK1

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.

Evidence on tissue expression from TISSUES for ITPK1 Gene

  • Nervous system(4.9)
  • Muscle(4.4)
  • Eye(4.2)
  • Lung(3.3)
  • Skin(3.2)
  • Blood(2.2)
  • Thyroid gland(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with ITPK1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 96.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ITPK1 29 30
  • 91.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ITPK1 29 30
  • 90.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Itpk1 29
  • 89.05 (n)
Mouse
(Mus musculus)
Mammalia Itpk1 29 16 30
  • 88.24 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ITPK1 30
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ITPK1 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ITPK1 29 30
  • 77.64 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ITPK1 30
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia itpk1 29
  • 74.06 (n)
Zebrafish
(Danio rerio)
Actinopterygii ITPK1 (2 of 2) 30
  • 72 (a)
OneToMany
LOC100148744 29
  • 71.86 (n)
itpk1 30
  • 64 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G33770 29
  • 42.82 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1337 30
  • 41 (a)
OneToOne
Species where no ortholog for ITPK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ITPK1: view image
Alliance of Genome Resources:
Additional Orthologs for ITPK1

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITPK1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs757209932 Uncertain Significance: not specified 92,946,358(-) C/T
NM_014216.6(ITPK1):c.874G>A (p.Ala292Thr)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ITPK1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv3841n54 CNV loss 21841781
dgv3842n54 CNV loss 21841781
dgv3843n54 CNV gain+loss 21841781
dgv3844n54 CNV gain+loss 21841781
dgv3845n54 CNV gain 21841781
dgv3846n54 CNV loss 21841781
dgv3847n54 CNV gain+loss 21841781
dgv3848n54 CNV gain 21841781
dgv3849n54 CNV gain+loss 21841781
dgv3850n54 CNV gain 21841781
dgv3851n54 CNV loss 21841781
dgv3852n54 CNV loss 21841781
esv2674911 CNV deletion 23128226
esv26978 CNV loss 19812545
esv29164 CNV gain 19812545
esv3635349 CNV loss 21293372
esv3635350 CNV gain 21293372
esv3892576 CNV loss 25118596
nsv1040456 CNV gain 25217958
nsv1069815 CNV deletion 25765185
nsv1121877 CNV deletion 24896259
nsv1126372 CNV deletion 24896259
nsv1400 CNV deletion 18451855
nsv1401 CNV deletion 18451855
nsv1402 CNV insertion 18451855
nsv456401 CNV loss 19166990
nsv456402 CNV loss 19166990
nsv470656 CNV loss 18288195
nsv470657 CNV gain 18288195
nsv517691 CNV loss 19592680
nsv565526 CNV loss 21841781
nsv565529 CNV gain 21841781
nsv565535 CNV loss 21841781
nsv565546 CNV loss 21841781
nsv565550 CNV gain 21841781
nsv565558 CNV gain 21841781
nsv827028 CNV gain 20364138
nsv85386 CNV deletion 16902084
nsv952884 CNV deletion 24416366

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)

Additional Variant Information for ITPK1 Gene

Human Gene Mutation Database (HGMD)
ITPK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITPK1
Leiden Open Variation Database (LOVD)
ITPK1

SNP Genotyping and Copy Number Assays for research

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: COP and GCD

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

Additional Disease Information for ITPK1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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. Integration of inositol phosphate signaling pathways via human ITPK1. (PMID: 17616525) Chamberlain PP … Spraggon G (The Journal of biological chemistry 2007) 3 4 22
  2. 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 SB (The Biochemical journal 2000) 2 3 4
  3. Isolation of inositol 1,3,4-trisphosphate 5/6-kinase, cDNA cloning and expression of the recombinant enzyme. (PMID: 8662638) Wilson MP … Majerus PW (The Journal of biological chemistry 1996) 2 3 4
  4. MLKL Requires the Inositol Phosphate Code to Execute Necroptosis. (PMID: 29883610) Dovey CM … Carette JE (Molecular cell 2018) 3 4
  5. Regulation of inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) by reversible lysine acetylation. (PMID: 22308441) Zhang C … Wilson MP (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4

Products for ITPK1 Gene

Sources for ITPK1 Gene