Human Gene ITPK1 (ENST00000267615.11_8) from GENCODE V47lift37
  Description: inositol-tetrakisphosphate 1-kinase, transcript variant 1 (from RefSeq NM_014216.6)
Gencode Transcript: ENST00000267615.11_8
Gencode Gene: ENSG00000100605.17_12
Transcript (Including UTRs)
   Position: hg19 chr14:93,403,259-93,582,270 Size: 179,012 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr14:93,407,906-93,581,508 Size: 173,603 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:93,403,259-93,582,270)mRNA (may differ from genome)Protein (414 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ITPK1_HUMAN
DESCRIPTION: RecName: Full=Inositol-tetrakisphosphate 1-kinase; EC=2.7.1.134; AltName: Full=Inositol 1,3,4-trisphosphate 5/6-kinase; Short=Inositol-triphosphate 5/6-kinase; Short=Ins(1,3,4)P(3) 5/6-kinase; EC=2.7.1.159;
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.
CATALYTIC ACTIVITY: ATP + 1D-myo-inositol 3,4,5,6- tetrakisphosphate = ADP + 1D-myo-inositol 1,3,4,5,6- pentakisphosphate.
CATALYTIC ACTIVITY: ATP + 1D-myo-inositol 1,3,4-trisphosphate = ADP + 1D-myo-inositol 1,3,4,5-tetrakisphosphate.
CATALYTIC ACTIVITY: ATP + 1D-myo-inositol 1,3,4-trisphosphate = ADP + 1D-myo-inositol 1,3,4,6-tetrakisphosphate.
COFACTOR: Binds 2 magnesium ions per subunit.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.3 uM for Ins(1,3,4)P3; KM=0.1 uM for Ins(3,4,5,6)P4; Vmax=320 pmol/min/ug enzyme with Ins(1,3,4)P3 as substrate; Vmax=780 pmol/min/ug enzyme enzyme with Ins(3,4,5,6)P4 as substrate;
SUBUNIT: Monomer. Interacts with GPS1/COPS1.
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.
SIMILARITY: Belongs to the ITPK1 family.
SIMILARITY: Contains 1 ATP-grasp domain.
CAUTION: PubMed:11533064 detected some protein kinase activity and ability to phosphorylate transcription factors c-jun/JUN and ATF2. However, PubMed:15762844 showed that it does not have protein kinase activity.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ITPK1
Diseases sorted by gene-association score: neural tube defects (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 56.94 RPKM in Brain - Cortex
Total median expression: 1101.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -188.10296-0.635 Picture PostScript Text
3' UTR -1885.904647-0.406 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011761 - ATP-grasp
IPR013816 - ATP_grasp_subdomain_2
IPR008656 - Inositol_tetrakis-P_1-kinase

Pfam Domains:
PF05770 - Inositol 1,3,4-trisphosphate 5/6-kinase ATP-grasp domain
PF17927 - Inositol 1,3,4-trisphosphate 5/6-kinase pre-ATP-grasp domain

SCOP Domains:
56059 - Glutathione synthetase ATP-binding domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2ODT - X-ray MuPIT 2Q7D - X-ray MuPIT 2QB5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13572
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0003824 catalytic activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0016787 hydrolase activity
GO:0016853 isomerase activity
GO:0046872 metal ion binding
GO:0047325 inositol tetrakisphosphate 1-kinase activity
GO:0052659 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity
GO:0052725 inositol-1,3,4-trisphosphate 6-kinase activity
GO:0052726 inositol-1,3,4-trisphosphate 5-kinase activity
GO:0052825 inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity
GO:0052830 inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity
GO:0052831 inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity
GO:0052835 inositol-3,4,6-trisphosphate 1-kinase activity

Biological Process:
GO:0007165 signal transduction
GO:0007596 blood coagulation
GO:0016310 phosphorylation
GO:0016311 dephosphorylation
GO:0021915 neural tube development
GO:0032957 inositol trisphosphate metabolic process
GO:0043647 inositol phosphate metabolic process

Cellular Component:
GO:0005622 intracellular
GO:0005829 cytosol
GO:0016324 apical plasma membrane


-  Descriptions from all associated GenBank mRNAs
  BC003622 - Homo sapiens inositol 1,3,4-triphosphate 5/6 kinase, mRNA (cDNA clone MGC:2116 IMAGE:3010239), complete cds.
BC007428 - Homo sapiens inositol 1,3,4-triphosphate 5/6 kinase, mRNA (cDNA clone MGC:3867 IMAGE:3010239), complete cds.
KJ891494 - Synthetic construct Homo sapiens clone ccsbBroadEn_00888 ITPK1 gene, encodes complete protein.
U51336 - Human inositol 1,3,4-trisphosphate 5/6-kinase mRNA, complete cds.
BC037305 - Homo sapiens inositol 1,3,4-triphosphate 5/6 kinase, mRNA (cDNA clone IMAGE:5261887), partial cds.
BC018192 - Homo sapiens inositol 1,3,4-triphosphate 5/6 kinase, mRNA (cDNA clone MGC:21491 IMAGE:3867269), complete cds.
AF279372 - Homo sapiens inositol 3,4,5,6 tetrakisphosphate 1-kinase/inositol 1,3,4-trisphosphate 5/6-kinase mRNA, complete cds.
AK293515 - Homo sapiens cDNA FLJ60426 complete cds, highly similar to Inositol-tetrakisphosphate 1-kinase (EC 2.7.1.134).
DQ891434 - Synthetic construct clone IMAGE:100004064; FLH176897.01X; RZPDo839A09124D inositol 1,3,4-triphosphate 5/6 kinase (ITPK1) gene, encodes complete protein.
DQ894609 - Synthetic construct Homo sapiens clone IMAGE:100009069; FLH176894.01L; RZPDo839A09123D inositol 1,3,4-triphosphate 5/6 kinase (ITPK1) gene, encodes complete protein.
CU678540 - Synthetic construct Homo sapiens gateway clone IMAGE:100018860 5' read ITPK1 mRNA.
AY129028 - Homo sapiens clone FP8080 unknown mRNA.
JD083191 - Sequence 64215 from Patent EP1572962.
JD082153 - Sequence 63177 from Patent EP1572962.
JD410081 - Sequence 391105 from Patent EP1572962.
JD247065 - Sequence 228089 from Patent EP1572962.
JD497747 - Sequence 478771 from Patent EP1572962.
DQ591169 - Homo sapiens piRNA piR-58281, complete sequence.
JD372409 - Sequence 353433 from Patent EP1572962.
JD532384 - Sequence 513408 from Patent EP1572962.
JD348363 - Sequence 329387 from Patent EP1572962.
JD058493 - Sequence 39517 from Patent EP1572962.
JD217374 - Sequence 198398 from Patent EP1572962.
JD294447 - Sequence 275471 from Patent EP1572962.
JD194271 - Sequence 175295 from Patent EP1572962.
JD446511 - Sequence 427535 from Patent EP1572962.
JD036645 - Sequence 17669 from Patent EP1572962.
JD124380 - Sequence 105404 from Patent EP1572962.
JD424776 - Sequence 405800 from Patent EP1572962.
JD156460 - Sequence 137484 from Patent EP1572962.
JD267447 - Sequence 248471 from Patent EP1572962.
JD118686 - Sequence 99710 from Patent EP1572962.
JD107342 - Sequence 88366 from Patent EP1572962.
JD122368 - Sequence 103392 from Patent EP1572962.
JD246427 - Sequence 227451 from Patent EP1572962.
JD082390 - Sequence 63414 from Patent EP1572962.
JD218421 - Sequence 199445 from Patent EP1572962.
JD496498 - Sequence 477522 from Patent EP1572962.
JD277575 - Sequence 258599 from Patent EP1572962.
JD519764 - Sequence 500788 from Patent EP1572962.
JD410680 - Sequence 391704 from Patent EP1572962.
JD131854 - Sequence 112878 from Patent EP1572962.
JD190104 - Sequence 171128 from Patent EP1572962.
JD382571 - Sequence 363595 from Patent EP1572962.
JD390564 - Sequence 371588 from Patent EP1572962.
JD551857 - Sequence 532881 from Patent EP1572962.
JD164288 - Sequence 145312 from Patent EP1572962.
JD270872 - Sequence 251896 from Patent EP1572962.
JD494310 - Sequence 475334 from Patent EP1572962.
JD143231 - Sequence 124255 from Patent EP1572962.
JD347202 - Sequence 328226 from Patent EP1572962.
JD088383 - Sequence 69407 from Patent EP1572962.
JD439425 - Sequence 420449 from Patent EP1572962.
JD483250 - Sequence 464274 from Patent EP1572962.
JD445909 - Sequence 426933 from Patent EP1572962.
JD178306 - Sequence 159330 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6362 - 1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
PWY-6365 - D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis
PWY-6366 - D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis
PWY-6371 - superpathway of inositol phosphate compounds
PWY-6554 - 1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)

Reactome (by CSHL, EBI, and GO)

Protein Q13572 (Reactome details) participates in the following event(s):

R-HSA-994140 ITPK1 converts Ins-1,3,4-P3 to Ins-1,3,4,5-P4
R-HSA-994137 ITPK1 converts Ins-3,4,5,6-P4 to Ins-1,3,4,5,6-P5
R-HSA-2267372 ITPK1 converts Ins-1,3,4-P3 to Ins-1,3,4,6-P4
R-HSA-1855197 I(1,3,4)P3 is phosphorylated to I(1,3,4,6)P4 by ITPK1 in the cytosol
R-HSA-1855172 I(1,3,4)P3 is phosphorylated to I(1,3,4,5)P4 by ITPK1 in the cytosol
R-HSA-1855169 I(3,4,6)P3 is phosphorylated to I(1,3,4,6)P4 by ITPK1 in the cytosol
R-HSA-1855171 I(1,3,4,6)P4 is dephosphorylated to I(1,3,4)P3 by ITPK1 in the cytosol
R-HSA-1855159 I(1,3,4,6)P4 is dephosphorylated to I(3,4,6)P3 by ITPK1 in the cytosol
R-HSA-1855219 I(1,3,4,5,6)P5 is dephosphorylated to I(3,4,5,6)P4 by ITPK1 in the cytosol
R-HSA-1855162 I(3,4,5,6)P4 is phosphorylated to I(1,3,4,5,6)P5 by ITPK1 in the cytosol
R-HSA-1855218 I(1,3,4,5)P4 is dephosphorylated to I(1,3,4)P3 by INPP5[3]/ITPK1 in the cytosol
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
R-HSA-1855167 Synthesis of pyrophosphates in the cytosol
R-HSA-109582 Hemostasis
R-HSA-1483249 Inositol phosphate metabolism
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000267615.1, ENST00000267615.10, ENST00000267615.2, ENST00000267615.3, ENST00000267615.4, ENST00000267615.5, ENST00000267615.6, ENST00000267615.7, ENST00000267615.8, ENST00000267615.9, ITPK1 , ITPK1_HUMAN, NM_014216, Q13572, Q9BTL6, Q9H2E7, uc317ild.1, uc317ild.2
UCSC ID: ENST00000267615.11_8
RefSeq Accession: NM_014216.6
Protein: Q13572 (aka ITPK1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.