ID:PCNT_HUMAN DESCRIPTION: RecName: Full=Pericentrin; AltName: Full=Kendrin; AltName: Full=Pericentrin-B; FUNCTION: Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome. SUBUNIT: Interacts with CHD3. Interacts with CHD4; the interaction regulates centrosome integrity (By similarity). Interacts with DISC1 and PCM1. Binds calmodulin. Interacts with CDK5RAP2; the interaction is leading to centrosomal localization of PCNT and CDK5RAP2. Interacts with isoform 1 of NEK2. INTERACTION: Q9NRI5:DISC1; NbExp=5; IntAct=EBI-530012, EBI-529989; SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Note=Centrosomal at all stages of the cell cycle. Remains associated with centrosomes following microtubule depolymerization. Colocalized with DISC1 at the centrosome. TISSUE SPECIFICITY: Expressed in all tissues tested, including placenta, liver, kidney and thymus. DOMAIN: Composed of a coiled-coil central region flanked by non- helical N- and C-terminals. DISEASE: Defects in PCNT are the cause of microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) [MIM:210720]; also known as osteodysplastic primordial dwarfism type 2. Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence. SEQUENCE CAUTION: Sequence=AAD10838.1; Type=Frameshift; Positions=3320; Sequence=BAA23698.3; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC04252.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF10495 - Pericentrin-AKAP-450 domain of centrosomal targeting protein
SCOP Domains: 57953 - Trimerization domain of TRAF
ModBase Predicted Comparative 3D Structure on O95613
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
LF384648 - JP 2014500723-A/192151: Polycomb-Associated Non-Coding RNAs. U52962 - Human centrosomal protein kendrin mRNA, complete cds. AF515282 - Homo sapiens pericentrin B (PCNT2) mRNA, complete cds. AB007862 - Homo sapiens KIAA0402 mRNA, partial cds. MA620225 - JP 2018138019-A/192151: Polycomb-Associated Non-Coding RNAs. AK024009 - Homo sapiens cDNA FLJ13947 fis, clone Y79AA1000985, highly similar to Human centrosomal protein kendrin mRNA. BC035913 - Homo sapiens pericentrin, mRNA (cDNA clone IMAGE:5495146), partial cds. JD445463 - Sequence 426487 from Patent EP1572962. AK296731 - Homo sapiens cDNA FLJ60084 partial cds, highly similar to Pericentrin. AK093923 - Homo sapiens cDNA FLJ36604 fis, clone TRACH2015243, highly similar to KENDRIN. LF322830 - JP 2014500723-A/130333: Polycomb-Associated Non-Coding RNAs. LF322829 - JP 2014500723-A/130332: Polycomb-Associated Non-Coding RNAs. LF322828 - JP 2014500723-A/130331: Polycomb-Associated Non-Coding RNAs. MA558407 - JP 2018138019-A/130333: Polycomb-Associated Non-Coding RNAs. MA558406 - JP 2018138019-A/130332: Polycomb-Associated Non-Coding RNAs. MA558405 - JP 2018138019-A/130331: Polycomb-Associated Non-Coding RNAs. JD038282 - Sequence 19306 from Patent EP1572962. JD232542 - Sequence 213566 from Patent EP1572962. JD221460 - Sequence 202484 from Patent EP1572962. JD307650 - Sequence 288674 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_akapCentrosomePathway - Protein Kinase A at the Centrosome
Reactome (by CSHL, EBI, and GO)
Protein O95613 (Reactome details) participates in the following event(s):
R-HSA-380272 Plk1-mediated phosphorylation of Nlp R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome R-HSA-380294 Loss of C-Nap-1 from centrosomes R-HSA-380311 Recruitment of Plk1 to centrosomes R-HSA-380455 Recruitment of CDK11p58 to the centrosomes R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome R-HSA-5626220 C2CD3 binds the mother centriole R-HSA-380508 Translocation of NuMA to the centrosomes R-HSA-2574845 AJUBA binds centrosome-associated AURKA R-HSA-8853405 TPX2 binds AURKA at centrosomes R-HSA-3000319 BORA binds PLK1 and AURKA R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation R-HSA-3000310 AURKA phosphorylates PLK1 R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole R-HSA-5626681 Recruitment of transition zone proteins R-HSA-5626227 CP110 and CEP97 dissociate from the centriole R-HSA-380316 Association of NuMA with microtubules R-HSA-8853419 TPX2 promotes AURKA autophosphorylation R-HSA-5626228 The distal appendage proteins recruit TTBK2 R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body R-HSA-5626699 MARK4 binds ODF2 in the centriole R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A R-HSA-380259 Loss of Nlp from mitotic centrosomes R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-5620912 Anchoring of the basal body to the plasma membrane R-HSA-380320 Recruitment of NuMA to mitotic centrosomes R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition R-HSA-8854518 AURKA Activation by TPX2 R-HSA-380287 Centrosome maturation R-HSA-5617833 Cilium Assembly R-HSA-68877 Mitotic Prometaphase R-HSA-69275 G2/M Transition R-HSA-1852241 Organelle biogenesis and maintenance R-HSA-68886 M Phase R-HSA-453274 Mitotic G2-G2/M phases R-HSA-69278 Cell Cycle (Mitotic) R-HSA-1640170 Cell Cycle
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Common Gene Haplotype Alleles 
