PCNT

PCNT
識別子
記号	PCNT, KEN, MOPD2, PCN, PCNT2, PCNTB, PCTN2, SCKL4, pericentrin
外部ID	OMIM: 605925 HomoloGene: 86942 GeneCards: PCNT
遺伝子の位置 (ヒト)
染色体	21番染色体 (ヒト)
終点	46,445,769 bp
RNA発現パターン
	さらなる参照発現データ
遺伝子オントロジー
分子機能	• 血漿タンパク結合; • calmodulin binding; • molecular adaptor activity;
細胞の構成要素	• 中心小体; • 中心体; • centriolar satellite; • 微小管; • 膜; • 細胞骨格; • 細胞質; • 微小管形成中心; • 細胞質基質;
生物学的プロセス	• positive regulation of intracellular protein transport; • mitotic spindle organization; • G2/M transition of mitotic cell cycle; • microtubule cytoskeleton organization; • cilium assembly; • ciliary basal body-plasma membrane docking; • regulation of G2/M transition of mitotic cell cycle; • シグナル伝達;
	出典:Amigo / QuickGO
オルソログ
	5116
	n/a
	ENSG00000160299
	n/a
	O95613
	n/a
	NM_006031; NM_001315529
	n/a
	NP_001302458; NP_006022
	n/a
	ウィキデータ
閲覧/編集ヒト

PCNT(ペリセントリン)は、ケンドリンとも呼ばれ、ヒトでは21番染色体上のPCNT遺伝子によってコードされるタンパク質である^[3]^[4]^[5]^[6]。

中心体に局在し、中心体マトリックス（PCM）にタンパク質を動員して、適切な紡錘体の形成を担保する。^[3]^[7]^[8]^[9]^[10]PCNTの異常はMOPDIIやゼッケル症候群などの先天性障害の原因として知られている。^[7]^[8]

配列[編集]

PCNTは360kDaのタンパク質であり、一連のコイルドコイルドメインと、C末端近くにPACTドメインと呼ばれる高度に保存されたPCMターゲティングモチーフが含まれている。^[3]^[6]^[7]^[8]^[9]^[11]^[12]

機能[編集]

PCNTは、細胞周期全体を通して中心体に局在し、中心体マトリックス(PCM)の主要な足場として機能する。^[3]^[6]^[7]^[9]^[13]^[14]PCNTはCDK5RAP2の中心体マトリックスを集積させ、CDK5RAP2はγ-チューブリンと相互作用することにより微小管の核形成を制御し、γ-チューブリン複合体を中心体に固定する。これは、初期の有糸分裂における双極紡錘体形成と染色体集合に重要である。^[3]^[7]^[8]^[9]^[10]

脚注[編集]

[脚注の使い方]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000160299 - Ensembl, May 2017
^ Human PubMed Reference:
^ ^a ^b ^c ^d ^e Entrez Gene: PCNT pericentrin (kendrin)
^ “Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter”. Genomics 35 (3): 620–4. (Aug 1996). doi:10.1006/geno.1996.0411. PMID 8812505.
^ “Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin”. Proceedings of the National Academy of Sciences of the United States of America 97 (11): 5919–23. (May 2000). Bibcode: 2000PNAS...97.5919F. doi:10.1073/pnas.97.11.5919. PMC 18534. PMID 10823944.
^ ^a ^b ^c “Kendrin/pericentrin-B, a centrosome protein with homology to pericentrin that complexes with PCM-1”. Journal of Cell Science 114 (Pt 4): 797–809. (Feb 2001). doi:10.1242/jcs.114.4.797. PMID 11171385.
^ ^a ^b ^c ^d ^e “Pericentrin contains five NESs and an NLS essential for its nucleocytoplasmic trafficking during the cell cycle”. Cell Research 20 (8): 948–62. (Aug 2010). doi:10.1038/cr.2010.89. PMID 20567258.
^ ^a ^b ^c ^d “Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosis”. PLOS ONE 9 (1): e87016. (2014). Bibcode: 2014PLoSO...987016K. doi:10.1371/journal.pone.0087016. PMC 3899370. PMID 24466316.
^ ^a ^b ^c ^d “Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes”. Diabetes 60 (3): 925–35. (Mar 2011). doi:10.2337/db10-1334. PMC 3046854. PMID 21270239.
^ ^a ^b “DISC1-kendrin interaction is involved in centrosomal microtubule network formation”. Biochemical and Biophysical Research Communications 377 (4): 1051–6. (Dec 2008). doi:10.1016/j.bbrc.2008.10.100. PMID 18955030.
^ “The PACT domain, a conserved centrosomal targeting motif in the coiled-coil proteins AKAP450 and pericentrin”. EMBO Reports 1 (6): 524–9. (Dec 2000). doi:10.1093/embo-reports/kvd105. PMC 1083777. PMID 11263498.
^ “Pericentrin expression in Down's syndrome”. Neurological Sciences 34 (11): 2023–5. (Nov 2013). doi:10.1007/s10072-013-1529-z. PMID 23979692.
^ “Separase-dependent cleavage of pericentrin B is necessary and sufficient for centriole disengagement during mitosis”. Cell Cycle 11 (13): 2476–85. (Jul 2012). doi:10.4161/cc.20878. PMID 22722493.
^ “Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis”. Pediatric Blood & Cancer 61 (2): 302–5. (Feb 2014). doi:10.1002/pbc.24783. PMID 24106199.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000160299 - Ensembl, May 2017

[2] Human PubMed Reference:

[entrez-3] Entrez Gene: PCNT pericentrin (kendrin)

[pmid8812505-4] “Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter”. Genomics 35 (3): 620–4. (Aug 1996). doi:10.1006/geno.1996.0411. PMID 8812505.

[pmid10823944-5] “Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin”. Proceedings of the National Academy of Sciences of the United States of America 97 (11): 5919–23. (May 2000). Bibcode: 2000PNAS...97.5919F. doi:10.1073/pnas.97.11.5919. PMC 18534. PMID 10823944.

[pmid11171385-6] “Kendrin/pericentrin-B, a centrosome protein with homology to pericentrin that complexes with PCM-1”. Journal of Cell Science 114 (Pt 4): 797–809. (Feb 2001). doi:10.1242/jcs.114.4.797. PMID 11171385.

[pmid20567258-7] “Pericentrin contains five NESs and an NLS essential for its nucleocytoplasmic trafficking during the cell cycle”. Cell Research 20 (8): 948–62. (Aug 2010). doi:10.1038/cr.2010.89. PMID 20567258.

[pmid24466316-8] “Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosis”. PLOS ONE 9 (1): e87016. (2014). Bibcode: 2014PLoSO...987016K. doi:10.1371/journal.pone.0087016. PMC 3899370. PMID 24466316.

[pmid21270239-9] “Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes”. Diabetes 60 (3): 925–35. (Mar 2011). doi:10.2337/db10-1334. PMC 3046854. PMID 21270239.

[pmid18955030-10] “DISC1-kendrin interaction is involved in centrosomal microtubule network formation”. Biochemical and Biophysical Research Communications 377 (4): 1051–6. (Dec 2008). doi:10.1016/j.bbrc.2008.10.100. PMID 18955030.

[11] “The PACT domain, a conserved centrosomal targeting motif in the coiled-coil proteins AKAP450 and pericentrin”. EMBO Reports 1 (6): 524–9. (Dec 2000). doi:10.1093/embo-reports/kvd105. PMC 1083777. PMID 11263498.

[pmid23979692-12] “Pericentrin expression in Down's syndrome”. Neurological Sciences 34 (11): 2023–5. (Nov 2013). doi:10.1007/s10072-013-1529-z. PMID 23979692.

[pmid22722493-13] “Separase-dependent cleavage of pericentrin B is necessary and sufficient for centriole disengagement during mitosis”. Cell Cycle 11 (13): 2476–85. (Jul 2012). doi:10.4161/cc.20878. PMID 22722493.

[pmid24106199-14] “Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis”. Pediatric Blood & Cancer 61 (2): 302–5. (Feb 2014). doi:10.1002/pbc.24783. PMID 24106199.

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