• Gene id: 3705

Gene Summary

• Gene Symbol: ITPK1   Gene   UCSC   Ensembl
• Aliases: ITRPK1
• Gene name: inositol-tetrakisphosphate 1-kinase
• Alternate names: inositol-tetrakisphosphate 1-kinase, inositol 1,3,4-trisphosphate 5/6-kinase, ins(1,3,4)P(3) 5/6-kinase,
• Gene location: 14q32.12 (93115924: 92936913)     Exons: 13     NC_000014.9
• Gene summary(Entrez): 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 met
• OMIM: 601838

Protein Summary

• Protein general information: Q13572  
  • Name: Inositol tetrakisphosphate 1 kinase (EC 2.7.1.134) (Inositol 1,3,4 trisphosphate 5/6 kinase) (Inositol triphosphate 5/6 kinase) (Ins(1,3,4)P(3) 5/6 kinase) (EC 2.7.1.159)
  • Length: 414  
  • Mass: 45621
  • 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. {ECO
• Sequence:

  MQTFLKGKRVGYWLSEKKIKKLNFQAFAELCRKRGMEVVQLNLSRPIEEQGPLDVIIHKLTDVILEADQNDSQSL
  ELVHRFQEYIDAHPETIVLDPLPAIRTLLDRSKSYELIRKIEAYMEDDRICSPPFMELTSLCGDDTMRLLEKNGL
  TFPFICKTRVAHGTNSHEMAIVFNQEGLNAIQPPCVVQNFINHNAVLYKVFVVGESYTVVQRPSLKNFSAGTSDR
  ESIFFNSHNVSKPESSSVLTELDKIEGVFERPSDEVIRELSRALRQALGVSLFGIDIIINNQTGQHAVIDINAFP
  GYEGVSEFFTDLLNHIATVLQGQSTAMAATGDVALLRHSKLLAEPAGGLVGERTCSASPGCCGSMMGQDAPWKAE
  ADAGGTAKLPHQRLGCNAGVSPSFQQHCVASLATKASSQ

• Structural information:
  • Protein Domains: (117..32-)
    (/note="ATP-grasp-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00409"-)
  • Interpro: IPR011761  IPR008656  IPR040464  IPR041429  
  • Prosite: PS50975
  • PDB: 2ODT 2Q7D 2QB5
  • PDBsum: 2ODT 2Q7D 2QB5
  • DIP: 60016
  • STRING: ENSP00000267615
• Other Databases: GeneCards:  ITPK1  Malacards:  ITPK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047325	inositol tetrakisphosphate 1-kinase activity	IBA	molecular function
GO:0052726	inositol-1,3,4-trisphosphate 5-kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0052725	inositol-1,3,4-trisphosphate 6-kinase activity	IBA	molecular function
GO:0052746	inositol phosphorylation	IBA	biological process
GO:0000825	inositol tetrakisphosphate 6-kinase activity	IMP	molecular function
GO:0070266	necroptotic process	IMP	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0032957	inositol trisphosphate metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0047325	inositol tetrakisphosphate 1-kinase activity	IEA	molecular function
GO:0052726	inositol-1,3,4-trisphosphate 5-kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0052725	inositol-1,3,4-trisphosphate 6-kinase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0003824	catalytic activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0047325	inositol tetrakisphosphate 1-kinase activity	IEA	molecular function
GO:0052726	inositol-1,3,4-trisphosphate 5-kinase activity	IEA	molecular function
GO:0052725	inositol-1,3,4-trisphosphate 6-kinase activity	IEA	molecular function
GO:0052725	inositol-1,3,4-trisphosphate 6-kinase activity	EXP	molecular function
GO:0047325	inositol tetrakisphosphate 1-kinase activity	EXP	molecular function
GO:0052726	inositol-1,3,4-trisphosphate 5-kinase activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq