Gene Gene information from NCBI Gene database.
Entrez ID 3705
Gene name Inositol-tetrakisphosphate 1-kinase
Gene symbol ITPK1
Synonyms (NCBI Gene)
ITRPK1
Chromosome 14
Chromosome location 14q32.12
Summary 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.
687
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601838 6177 ENSG00000100605
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 27790247
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident Stroke GWASCAT_DG 27790247
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 30804561
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 29908079 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35194111 Associate
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease GWASCAT_DG 27790247
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic fibrosis Pubtator 17616525 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes GWASCAT_DG 27790247
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus GWASCAT_DG 27790247
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms Endometrial neoplasm Pubtator 34970268 Associate
★☆☆☆☆
Found in Text Mining only