Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3705
Gene name Gene Name - the full gene name approved by the HGNC.
Inositol-tetrakisphosphate 1-kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ITPK1
Synonyms (NCBI Gene) Gene synonyms aliases
ITRPK1
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.12
Summary Summary of gene provided in NCBI Entrez 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 met
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT039431 hsa-miR-421 CLASH 23622248
MIRT518880 hsa-miR-6746-3p PAR-CLIP 23446348
MIRT518879 hsa-miR-6872-3p PAR-CLIP 23446348
MIRT518878 hsa-miR-4537 PAR-CLIP 23446348
MIRT518877 hsa-miR-6744-5p PAR-CLIP 23446348
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0000825 Function Inositol-1,3,4,5-tetrakisphosphate 6-kinase activity IMP 29883610
GO:0003824 Function Catalytic activity TAS 8662638
GO:0005515 Function Protein binding IPI 28514442, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601838 6177 ENSG00000100605
Protein
UniProt ID Q13572
Protein 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)
Protein function Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3 (PubMed:11042108, PubMed:8662638). Phosphorylates Ins(3,4,5,6)P4 at position 1 to form Ins(1,3,4,5,6)P5 (PubMed:11042108). This reaction is thoug
PDB 2ODT , 2Q7D , 2QB5 , 9DN3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17927 Ins134_P3_kin_N 9 100 Inositol 1,3,4-trisphosphate 5/6-kinase pre-ATP-grasp domain Domain
PF05770 Ins134_P3_kin 119 318 Inositol 1,3,4-trisphosphate 5/6-kinase ATP-grasp domain Domain
Tissue specificity 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:0
Sequence
Sequence length 414
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
  Synthesis of pyrophosphates in the cytosol
Synthesis of IP3 and IP4 in the cytosol
Factors involved in megakaryocyte development and platelet production
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cognition Disorders Associate 29908079
Colorectal Neoplasms Associate 35194111
Cystic Fibrosis Associate 17616525
Endometrial Neoplasms Associate 34970268
Inflammation Associate 32945445
Ischemic Stroke Associate 32945445
Meningioma Associate 32949309
Neoplasms Associate 32949309
Neural Tube Defects Associate 24465924
Spinal Dysraphism Associate 24465924