ITPK1, Official Symbol ITPK1provided by HGNC Official Full Name inositol-tetrakisphosphate 1-kinaseprovided by HGNC Primary source HGNC:HGNC:6177 See related Ensembl:ENSG00000100605 MIM:601838; AllianceGenome:HGNC:6177 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ITRPK1 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 metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in brain (RPKM 29.9), fat (RPKM 26.2) and 25 other tissues See more Orthologs mouse all