PI4KA_HUMAN
Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate. [View more on UniProt]
To display all evidence describing the interaction with a partner, click on the protein name left to the bars.
| Position | Amino acid | Mutation | Disease | Overlap with binding region |
|---|---|---|---|---|
| 1854 | Asp | Asn | Neurodevelopmentaldisorderwithspasticity,hypomyelinatingleukodystrophy,andbrainabnormalities(NEDSPLB) | - |
| 777 | Leu | Pro | Neurodevelopmentaldisorderwithspasticity,hypomyelinatingleukodystrophy,andbrainabnormalities(NEDSPLB) | - |
| 1623 | Tyr | Asp | Gastrointestinaldefectsandimmunodeficiencysyndrome2(GIDID2) | - |
| 1664 | Asp | Asn | Neurodevelopmentaldisorderwithspasticity,hypomyelinatingleukodystrophy,andbrainabnormalities(NEDSPLB) | - |
| 1808 | Lys | Thr | Neurodevelopmentaldisorderwithspasticity,hypomyelinatingleukodystrophy,andbrainabnormalities(NEDSPLB) | - |
| 1925 | Gly | Glu | Neurodevelopmentaldisorderwithspasticity,hypomyelinatingleukodystrophy,andbrainabnormalities(NEDSPLB) | - |
| 1937 | Tyr | Cys | Neurodevelopmentaldisorderwithspasticity,hypomyelinatingleukodystrophy,andbrainabnormalities(NEDSPLB) | - |
No annotated instance was found. To search for linear motifs, use the ELM prediction server.
Molecular function
| Term | Name | % | Distance from the top of the tree | Annotated in PI4KA_HUMAN |
|---|---|---|---|---|
| GO:0043168 | anion binding | 27.2727 | 4 | yes |
| GO:0043169 | cation binding | 27.2727 | 4 | no |
| GO:0000166 | nucleotide binding | 24.2424 | 4 | yes |
| GO:0017076 | purine nucleotide binding | 24.2424 | 5 | yes |
| GO:0032555 | purine ribonucleotide binding | 24.2424 | 4 | yes |
| GO:0035639 | purine ribonucleoside triphosphate binding | 24.2424 | 4 | yes |
| GO:0046872 | metal ion binding | 24.2424 | 5 | no |
| GO:0005524 | ATP binding | 21.2121 | 5 | yes |
| GO:0016301 | kinase activity | 21.2121 | 4 | yes |
| GO:0016773 | phosphotransferase activity, alcohol group as acceptor | 21.2121 | 4 | yes |
| GO:0030554 | adenyl nucleotide binding | 21.2121 | 6 | yes |
| GO:0032559 | adenyl ribonucleotide binding | 21.2121 | 5 | yes |
| GO:0045296 | cadherin binding | 15.1515 | 4 | yes |
| GO:0001727 | lipid kinase activity | 6.0606 | 5 | yes |
| GO:0004430 | 1-phosphatidylinositol 4-kinase activity | 6.0606 | 6 | yes |
| GO:0052742 | phosphatidylinositol kinase activity | 6.0606 | 5 | yes |
Biological process
| Term | Name | % | Distance from top the of the tree | Annotated in PI4KA_HUMAN |
|---|---|---|---|---|
| GO:0048522 | positive regulation of cellular process | 60.6061 | 4 | no |
| GO:0060255 | regulation of macromolecule metabolic process | 54.5455 | 4 | no |
| GO:0080090 | regulation of primary metabolic process | 54.5455 | 4 | no |
| GO:0031323 | regulation of cellular metabolic process | 51.5152 | 4 | no |
| GO:0048523 | negative regulation of cellular process | 51.5152 | 4 | no |
| GO:0051128 | regulation of cellular component organization | 51.5152 | 4 | no |
| GO:0010646 | regulation of cell communication | 51.5152 | 4 | no |
| GO:0009966 | regulation of signal transduction | 42.4242 | 4 | no |
| GO:0031344 | regulation of cell projection organization | 39.3939 | 5 | no |
| GO:0120035 | regulation of plasma membrane bounded cell projection organization | 39.3939 | 6 | no |
| GO:0006996 | organelle organization | 39.3939 | 4 | no |
| GO:0022607 | cellular component assembly | 39.3939 | 4 | no |
| GO:0051246 | regulation of protein metabolic process | 39.3939 | 5 | no |
| GO:0031326 | regulation of cellular biosynthetic process | 36.3636 | 5 | no |
| GO:0043412 | macromolecule modification | 36.3636 | 4 | no |
| GO:0022603 | regulation of anatomical structure morphogenesis | 36.3636 | 4 | no |
| GO:0009892 | negative regulation of metabolic process | 36.3636 | 4 | no |
| GO:0010605 | negative regulation of macromolecule metabolic process | 36.3636 | 5 | no |
| GO:0009889 | regulation of biosynthetic process | 36.3636 | 4 | no |
| GO:0036211 | protein modification process | 33.3333 | 4 | no |
| GO:0010468 | regulation of gene expression | 33.3333 | 6 | no |
| GO:0010556 | regulation of macromolecule biosynthetic process | 33.3333 | 5 | no |
| GO:0051049 | regulation of transport | 33.3333 | 4 | no |
| GO:0051248 | negative regulation of protein metabolic process | 33.3333 | 6 | no |
| GO:0009893 | positive regulation of metabolic process | 33.3333 | 4 | no |
| GO:0010604 | positive regulation of macromolecule metabolic process | 33.3333 | 5 | no |
| GO:0010975 | regulation of neuron projection development | 33.3333 | 7 | no |
| GO:0048584 | positive regulation of response to stimulus | 30.3030 | 4 | no |
| GO:0051130 | positive regulation of cellular component organization | 30.3030 | 5 | no |
| GO:0008104 | protein localization | 30.3030 | 4 | no |
| GO:0034330 | cell junction organization | 30.3030 | 4 | no |
| GO:0031324 | negative regulation of cellular metabolic process | 30.3030 | 5 | no |
| GO:0010647 | positive regulation of cell communication | 30.3030 | 5 | no |
| GO:0023056 | positive regulation of signaling | 30.3030 | 4 | no |
| GO:0031325 | positive regulation of cellular metabolic process | 27.2727 | 5 | no |
| GO:0051094 | positive regulation of developmental process | 27.2727 | 4 | no |
| GO:0051240 | positive regulation of multicellular organismal process | 27.2727 | 4 | no |
| GO:1902531 | regulation of intracellular signal transduction | 27.2727 | 5 | no |
| GO:0050804 | modulation of chemical synaptic transmission | 27.2727 | 5 | no |
| GO:0099177 | regulation of trans-synaptic signaling | 27.2727 | 4 | no |
| GO:2000026 | regulation of multicellular organismal development | 27.2727 | 4 | no |
| GO:0044087 | regulation of cellular component biogenesis | 27.2727 | 4 | no |
| GO:0006796 | phosphate-containing compound metabolic process | 27.2727 | 4 | yes |
| GO:0019219 | regulation of nucleobase-containing compound metabolic process | 27.2727 | 5 | no |
| GO:0031346 | positive regulation of cell projection organization | 24.2424 | 6 | no |
| GO:0042981 | regulation of apoptotic process | 24.2424 | 5 | no |
| GO:0043067 | regulation of programmed cell death | 24.2424 | 4 | no |
| GO:0071310 | cellular response to organic substance | 24.2424 | 4 | no |
| GO:0080134 | regulation of response to stress | 24.2424 | 4 | no |
| GO:0141124 | intracellular signaling cassette | 24.2424 | 4 | no |
| GO:0045595 | regulation of cell differentiation | 24.2424 | 4 | no |
| GO:0051129 | negative regulation of cellular component organization | 24.2424 | 5 | no |
| GO:0033043 | regulation of organelle organization | 24.2424 | 5 | no |
| GO:0031399 | regulation of protein modification process | 24.2424 | 6 | no |
| GO:0043086 | negative regulation of catalytic activity | 24.2424 | 4 | no |
| GO:0051050 | positive regulation of transport | 24.2424 | 4 | no |
| GO:0051338 | regulation of transferase activity | 24.2424 | 4 | no |
| GO:0060341 | regulation of cellular localization | 24.2424 | 4 | no |
| GO:0016310 | phosphorylation | 24.2424 | 5 | yes |
| GO:0009967 | positive regulation of signal transduction | 24.2424 | 5 | no |
| GO:0010243 | response to organonitrogen compound | 24.2424 | 4 | no |
| GO:0030030 | cell projection organization | 24.2424 | 4 | no |
| GO:0030334 | regulation of cell migration | 21.2121 | 5 | no |
| GO:0033993 | response to lipid | 21.2121 | 4 | no |
| GO:1901701 | cellular response to oxygen-containing compound | 21.2121 | 4 | no |
| GO:2000145 | regulation of cell motility | 21.2121 | 4 | no |
| GO:0050767 | regulation of neurogenesis | 21.2121 | 6 | no |
| GO:0050890 | cognition | 21.2121 | 4 | no |
| GO:0051960 | regulation of nervous system development | 21.2121 | 5 | no |
| GO:0060284 | regulation of cell development | 21.2121 | 5 | no |
| GO:0019220 | regulation of phosphate metabolic process | 21.2121 | 6 | no |
| GO:0032880 | regulation of protein localization | 21.2121 | 5 | no |
| GO:0042325 | regulation of phosphorylation | 21.2121 | 7 | no |
| GO:0043085 | positive regulation of catalytic activity | 21.2121 | 4 | no |
| GO:0043549 | regulation of kinase activity | 21.2121 | 5 | no |
| GO:0051174 | regulation of phosphorus metabolic process | 21.2121 | 5 | no |
| GO:0051247 | positive regulation of protein metabolic process | 21.2121 | 6 | no |
| GO:0051348 | negative regulation of transferase activity | 21.2121 | 5 | no |
| GO:0031400 | negative regulation of protein modification process | 21.2121 | 7 | no |
| GO:0051252 | regulation of RNA metabolic process | 21.2121 | 5 | no |
| GO:0010648 | negative regulation of cell communication | 21.2121 | 5 | no |
| GO:0023057 | negative regulation of signaling | 21.2121 | 4 | no |
| GO:0006644 | phospholipid metabolic process | 9.0909 | 4 | yes |
| GO:0006650 | glycerophospholipid metabolic process | 9.0909 | 5 | yes |
| GO:0006661 | phosphatidylinositol biosynthetic process | 9.0909 | 6 | yes |
| GO:0008610 | lipid biosynthetic process | 9.0909 | 4 | yes |
| GO:0008654 | phospholipid biosynthetic process | 9.0909 | 5 | yes |
| GO:0045017 | glycerolipid biosynthetic process | 9.0909 | 4 | yes |
| GO:0046474 | glycerophospholipid biosynthetic process | 9.0909 | 5 | yes |
| GO:0046486 | glycerolipid metabolic process | 9.0909 | 4 | yes |
| GO:0046488 | phosphatidylinositol metabolic process | 9.0909 | 6 | yes |
| GO:0046854 | phosphatidylinositol phosphate biosynthetic process | 9.0909 | 7 | yes |
| GO:0090407 | organophosphate biosynthetic process | 9.0909 | 4 | yes |
| GO:0044788 | modulation by host of viral process | 6.0606 | 5 | yes |
| GO:0048015 | phosphatidylinositol-mediated signaling | 6.0606 | 4 | yes |
| GO:0051851 | modulation by host of symbiont process | 6.0606 | 4 | yes |
| GO:0140754 | reorganization of cellular membranes to establish viral sites of replication | 6.0606 | 4 | yes |
Disease
No data found.
| Uniprot ID | Details | Highest evidence | Localizing into PSD | HPA (protein expression in neurons) |
|---|---|---|---|---|
| HYCCI_HUMAN | [view interactions] | Low throughput | no | no |
| TTC7B_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| PI4KA_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| S10A9_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| INVO_HUMAN | [view interactions] | High throughput | no | no |
| PLAK_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| TYPH_HUMAN | [view interactions] | High throughput | no | no |
| FILA_HUMAN | [view interactions] | High throughput | no | no |
| TGM1_HUMAN | [view interactions] | High throughput | no | no |
| LORI_HUMAN | [view interactions] | High throughput | no | no |
| CALL3_HUMAN | [view interactions] | High throughput | no | yes |
| ADH7_HUMAN | [view interactions] | High throughput | no | no |
| HUTH_HUMAN | [view interactions] | High throughput | no | yes |
| DSG1_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| DSC2_HUMAN | [view interactions] | High throughput | no | no |
| CDSN_HUMAN | [view interactions] | High throughput | no | no |
| PLBL1_HUMAN | [view interactions] | High throughput | no | no |
| FBX50_HUMAN | [view interactions] | High throughput | no | no |
| SPA12_HUMAN | [view interactions] | High throughput | no | no |
| PI4P1_HUMAN | [view interactions] | High throughput | no | no |
| DR9C7_HUMAN | [view interactions] | High throughput | no | no |
| POF1B_HUMAN | [view interactions] | High throughput | no | no |
| EVPL_HUMAN | [view interactions] | High throughput | no | yes |
| RNAS7_HUMAN | [view interactions] | High throughput | no | no |
| ACM3_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SDC2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CAH14_HUMAN | [view interactions] | High throughput | no | yes |
| CD83_HUMAN | [view interactions] | High throughput | no | yes |
| KI67_HUMAN | [view interactions] | High throughput | no | no |
| NDUF8_HUMAN | [view interactions] | High throughput | no | no |
| NDUA4_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| OCAD1_HUMAN | [view interactions] | High throughput | no | yes |
| ZDHC5_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SHAN3_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| CNR2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ZBT18_HUMAN | [view interactions] | High throughput | no | yes |
| PP2BC_HUMAN | [view interactions] | High throughput | no | yes |
| CUL4A_HUMAN | [view interactions] | High throughput | no | no |
| SNF5_HUMAN | [view interactions] | High throughput | no | yes |
| TTC7A_HUMAN | [view interactions] | High throughput | no | yes |
| VCAM1_HUMAN | [view interactions] | High throughput | no | no |
| FINC_HUMAN | [view interactions] | High throughput | no | yes |
| TAU_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SRCN1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| TBA1A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| MED4_HUMAN | [view interactions] | High throughput | no | yes |
| MED20_HUMAN | [view interactions] | High throughput | no | no |
| PGRC2_HUMAN | [view interactions] | High throughput | no | yes |
| SHC2_HUMAN | [view interactions] | High throughput | no | yes |
| SHIP2_HUMAN | [view interactions] | High throughput | no | yes |
| SRC_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| STAT2_HUMAN | [view interactions] | High throughput | no | yes |
| STAP2_HUMAN | [view interactions] | High throughput | no | yes |
| LIMK1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| PKN3_HUMAN | [view interactions] | High throughput | no | yes |
| M4K1_HUMAN | [view interactions] | High throughput | no | no |
| TESK2_HUMAN | [view interactions] | High throughput | no | yes |
| CALM3_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| IGF1R_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CYFP1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SYGP1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ITM2B_HUMAN | [view interactions] | High throughput | no | yes |
| HDAC4_HUMAN | [view interactions] | High throughput | no | yes |
| ANS1B_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| MET_HUMAN | [view interactions] | High throughput | no | yes |
| CFTR_HUMAN | [view interactions] | High throughput | no | no |
| STRN4_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| MTR1B_HUMAN | [view interactions] | High throughput | no | yes |
| 1433Z_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ESR2_HUMAN | [view interactions] | High throughput | no | no |
| FOXL1_HUMAN | [view interactions] | High throughput | no | no |
| ESR1_HUMAN | [view interactions] | High throughput | no | no |
| EPHB2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| FGFR3_HUMAN | [view interactions] | High throughput | no | yes |
| VGFR1_HUMAN | [view interactions] | High throughput | no | no |
| FLT3_HUMAN | [view interactions] | High throughput | no | no |
| 1433F_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| 1433G_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| KCC2A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SYNPO_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| CH033_HUMAN | [view interactions] | High throughput | no | yes |
| RM44_HUMAN | [view interactions] | High throughput | no | yes |
| TNNT1_HUMAN | [view interactions] | High throughput | no | no |
| HAKAI_HUMAN | [view interactions] | High throughput | no | yes |
| FLNB_HUMAN | [view interactions] | High throughput | no | no |
| COR1C_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| HNRPQ_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| BAG6_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SORT_HUMAN | [view interactions] | High throughput | no | yes |
| RM01_HUMAN | [view interactions] | High throughput | no | yes |
| F174A_HUMAN | [view interactions] | High throughput | no | yes |
| C5AR2_HUMAN | [view interactions] | High throughput | no | yes |
| KLK5_HUMAN | [view interactions] | High throughput | no | no |
| NPY2R_HUMAN | [view interactions] | High throughput | no | no |
| A2ML1_HUMAN | [view interactions] | High throughput | no | no |
| SBSN_HUMAN | [view interactions] | High throughput | no | no |
| SPB7_HUMAN | [view interactions] | High throughput | no | no |
| DUS14_HUMAN | [view interactions] | High throughput | no | yes |
| HLAB_HUMAN | [view interactions] | High throughput | no | yes |
| CRYAB_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| PAI2_HUMAN | [view interactions] | High throughput | no | no |