PPIP5K1
diphosphoinositol pentakisphosphate kinase 1
Summary
This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150254952 | 15:43,827,080 | A/G | — | likely benign |
| rs758702978 | 15:43,827,098 | C/G | — | uncertain significance |
| rs778349324 | 15:43,827,137 | A/G | — | likely benign |
| rs746137105 | 15:43,827,158 | C/T | — | uncertain significance |
| rs372230689 | 15:43,827,177 | C/T | — | uncertain significance |
| rs2079640175 | 15:43,827,196 | C/A | — | uncertain significance |
| rs1186776852 | 15:43,827,297 | G/A | — | uncertain significance |
| rs755654431 | 15:43,827,303 | C/T | — | uncertain significance |
| rs757534060 | 15:43,827,338 | C/T | — | uncertain significance |
| rs190919087 | 15:43,827,353 | G/A | — | uncertain significance |
| rs775148161 | 15:43,827,405 | G/T | — | uncertain significance |
| rs763702965 | 15:43,827,420 | C/T | — | uncertain significance |
| rs144418967 | 15:43,827,450 | C/T | — | uncertain significance |
| rs1326612758 | 15:43,827,500 | A/G | — | uncertain significance |
| rs148484985 | 15:43,827,512 | C/G | — | uncertain significance |
| rs1372269679 | 15:43,827,519 | C/T | — | uncertain significance |
| rs143339052 | 15:43,831,724 | C/T | — | uncertain significance |
| rs2505158715 | 15:43,831,727 | G/A | — | uncertain significance |
| rs690604 | 15:43,834,864 | G/C | — | — |
| rs2251844 | 15:43,836,478 | T/C | intron variant | — |
| rs2439843 | 15:43,846,036 | A/G | intron variant | — |
| rs529567389 | 15:43,850,570 | C/T | — | — |
| rs139570770 | 15:43,851,025 | C/T | — | uncertain significance |
| rs1254111429 | 15:43,851,041 | T/A | — | uncertain significance |
| rs373473780 | 15:43,851,061 | C/T | — | uncertain significance |
| rs141032391 | 15:43,853,591 | T/G | — | — |
| rs778257376 | 15:43,873,260 | T/C | — | uncertain significance |
| rs776406070 | 15:43,873,293 | C/G | — | uncertain significance |
| rs2507334118 | 15:43,873,311 | C/A | — | uncertain significance |
| rs2507350193 | 15:43,873,513 | C/T | — | uncertain significance |
| rs368128606 | 15:43,873,528 | T/C | — | uncertain significance |
| rs2085054581 | 15:43,873,558 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.