Gene table of PIP5K1C : phosphatidylinositol-4-phosphate 5-kinase type 1 gamma

Gene-disease associations table

Disease IDDisease nameSource of annotation with PIP5K1COMIM linkNumber of associated genesgenes
PS253310LETHAL CONGENITAL CONTRACTURE SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 9MYBPC1, ZBTB42, ERBB3, GLE1, ADGRG6, CNTNAP1, DNM2, PIP5K1C, ADCY6

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Annotation of the gene PIP5K1C

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Inositol phosphate metabolismhsa005626.72
Focal adhesionhsa045104.92
Metabolic pathwayshsa011002.49
Phosphatidylinositol signaling systemhsa040706.38
Choline metabolism in cancerhsa052316.09
Endocytosishsa041444.92
Fc gamma R-mediated phagocytosishsa046666.21
Regulation of actin cytoskeletonhsa048104.9
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Synthesis of PIPs at the plasma membraneR-HSA-16604997.94
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesionR-HSA-3999559.18
Phospholipid metabolismR-HSA-14832575.83
PI MetabolismR-HSA-14832557.31
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
MetabolismR-HSA-14307282.34
Semaphorin interactionsR-HSA-3737556.92
Axon guidanceR-HSA-4224753.93
Developmental BiologyR-HSA-12667383.48
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
bindingGO:00054880.18
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
nucleotide bindingGO:00001661.96
phosphatidylinositol-3,4-bisphosphate 5-kinase activityGO:00528128.64
phosphatidylinositol bisphosphate kinase activityGO:00528135.56
transferase activityGO:00167401.95
1-phosphatidylinositol-3-phosphate 4-kinase activityGO:00528118.13
purine nucleoside bindingGO:00018832.22
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
ATP bindingGO:00055242.43
1-phosphatidylinositol-4-phosphate 5-kinase activityGO:00163087.66
kinase activityGO:00163012.93
phosphatidylinositol phosphate kinase activityGO:00163076.97
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
adenyl nucleotide bindingGO:00305542.4
phosphotransferase activity, alcohol group as acceptorGO:00167733.08
organic cyclic compound bindingGO:00971591.05
carbohydrate derivative bindingGO:00973672.03
adenyl ribonucleotide bindingGO:00325592.41
protein bindingGO:00055150.46
transferase activity, transferring phosphorus-containing groupsGO:00167722.77
purine ribonucleotide bindingGO:00325552.2
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19