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Gene : ITPK1 Homo sapiens

Name  ? inositol-tetrakisphosphate 1-kinase Cytological Location  14q32.12
Brief Description  inositol-tetrakisphosphate 1-kinase
Description  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]
  • synonyms:
  • inositol 1,3,4-triphosphate 5/6 kinase,
  • ITPK1,
  • U51336,
  • ITRPK1,
  • OTTHUMG00000171226,
  • uc001ybg.4,
  • NM_014216,
  • HGNC:6177
  • identifiers:
  • 3705,
  • ENSG00000100605,
  • ITPK1

Genome feature

Region: gene ? Length: 179012  
Location: 14:92936914-93115925 reverse strand Cyto location: 14q32.12


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

849 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results