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:0000287 Function Magnesium ion binding IEA
GO:0000825 Function Inositol tetrakisphosphate 6-kinase activity IMP 29883610
GO:0003824 Function Catalytic activity TAS 8662638
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA 21873635
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
27790247
Diabetes Diabetes rs80356611 27790247
Diabetes mellitus Diabetes Mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
27790247
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30804561 ClinVar
Coronary heart disease Coronary heart disease 27790247 ClinVar
Heart failure Heart failure 27790247 ClinVar
Myocardial infarction Myocardial Infarction 21211798 ClinVar
Associations from Text Mining
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