PCNT
Summary: The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| pericentrin | MIM:605925 | Ensembl:ENSG00000160299 | HGNC:HGNC:16068 | PA33079 | 21q22.3 |
Gene Categories:
TUMOR SUPPRESSORGO terms in PCNT
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0000086 | G2/M transition of mitotic cell cycle |
| BP | IMP | GO:0000226 | microtubule cytoskeleton organization |
| BP | IMP | GO:0007052 | mitotic spindle organization |
| BP | IEA | GO:0007165 | signal transduction |
| BP | TAS | GO:0010389 | regulation of G2/M transition of mitotic cell cycle |
| BP | IDA | GO:0060271 | cilium assembly |
| BP | IMP | GO:0090316 | positive regulation of intracellular protein transport |
| BP | TAS | GO:0097711 | ciliary basal body-plasma membrane docking |
| CC | IDA | GO:0005813 | centrosome |
| CC | IDA | GO:0005814 | centriole |
| CC | IDA | GO:0005815 | microtubule organizing center |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0005874 | microtubule |
| CC | HDA | GO:0016020 | membrane |
| CC | IDA | GO:0034451 | centriolar satellite |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005516 | calmodulin binding |
| MF | IEA | GO:0032947 | protein-containing complex scaffold activity |
Gene expression in normal tissue: PCNT
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PCNT
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-1852241 | Organelle biogenesis and maintenance |
| reactome | R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition |
| reactome | R-HSA-380259 | Loss of Nlp from mitotic centrosomes |
| reactome | R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes |
| reactome | R-HSA-380284 | Loss of proteins required for interphase microtubule organization from the centrosome |
| reactome | R-HSA-380287 | Centrosome maturation |
| reactome | R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes |
| reactome | R-HSA-453274 | Mitotic G2-G2/M phases |
| reactome | R-HSA-5617833 | Cilium Assembly |
| reactome | R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| reactome | R-HSA-68877 | Mitotic Prometaphase |
| reactome | R-HSA-68886 | M Phase |
| reactome | R-HSA-69275 | G2/M Transition |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
| reactome | R-HSA-8854518 | AURKA Activation by TPX2 |
| wikipathways | WP3609 | Olfactory bulb development and olfactory learning |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PCNT
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