AKAP9

AKAP9
Pengidentifikasi
Alias	AKAP9, AKAP-9, AKAP350, AKAP450, CG-NAP, HYPERION, LQT11, MU-RMS-40.16A, PPP1R45, PRKA9, YOTIAO, A-kinase anchoring protein 9
ID eksternal	OMIM: 604001 HomoloGene: 17517 GeneCards: AKAP9
Pola ekspresi RNA
	Referensi data ekspresi selengkapnya
Ontologi gen
Fungsi molekuler	• transmembrane transporter binding; • potassium channel regulator activity; • GO:0001948, GO:0016582 Ikatan protein plasma; • GO:0032947 molecular adaptor activity; • signaling receptor binding; • protein kinase A regulatory subunit binding; • DNA binding; • kinase activity;
Komponen seluler	• sitoplasma; • sitosol; • sentrosom; • badan Golgi; • intracellular membrane-bounded organelle; • voltage-gated potassium channel complex; • cis-Golgi network; • microtubule organizing center; • Golgi stack; • Sitoskeleton; • dendritic branch; • synaptic membrane; • soma; • glutamatergic synapse; • extrinsic component of postsynaptic density membrane;
Proses biologis	• positive regulation of peptidyl-serine phosphorylation; • MAPK cascade; • G2/M transition of mitotic cell cycle; • regulation of membrane repolarization; • regulation of heart rate by cardiac conduction; • cellular response to cAMP; • GO:0072468 signal transduction; • positive regulation of potassium ion transmembrane transporter activity; • microtubule nucleation; • regulation of ventricular cardiac muscle cell membrane repolarization; • chemical synaptic transmission; • response to electrical stimulus; • negative regulation of adenylate cyclase activity; • ciliary basal body-plasma membrane docking; • regulation of cardiac muscle cell action potential involved in regulation of contraction; • maintenance of centrosome location; • regulation of G2/M transition of mitotic cell cycle; • regulation of Golgi organization; • positive regulation of microtubule polymerization; • regulation of postsynaptic neurotransmitter receptor activity; • cardiac conduction; • Fosforilasi;
	Sumber:Amigo / QuickGO
Ortolog
	10142
	n/a
	ENSG00000127914
	n/a
	Q99996; Q6PJH3
	n/a
	NM_005751; NM_147166; NM_147171; NM_147185; NM_001379277
	n/a
	NP_005742; NP_671714; NP_001366206; NP_005742.4; NP_671714.1
	n/a
	Wikidata
Lihat/Sunting Manusia

A-kinase anchor protein 9 adalah protein pada manusia yang disandi oleh gen AKAP9 gen.^[2]^[3]^[4] AKAP9 ini juga dikenal sebagai Centrosome- and Golgi-localized protein kinase N-associated protein (CG-NAP) atau AKAP350 atau AKAP450 ^[5]

Fungsi

A-kinase anchor proteins (AKAPs) adalah kelompok protein yang secara struktur beragam yang memiliki fungsi umum berikatan dengan subunit pengatur protein kinase A (PKA) dan membatasi holoenzyme dalam hal lokalisasi di dalam sel. Gen ini menyandi anggota keluarga AKAP. Alternatif penyambungan gen ini mengakibatkan banyak isoform yang melokalisasi ke sentrosom dan aparat Golgi, dan berinteraksi dengan banyak protein pensinyalan dari beberapa jalur transduksi sinyal. Protein termasuk tipe II protein kinase A, serin/treonin kinase protein kinase N, protein fosfatase 1, protein fosfatase 2a, protein kinase C-epsilon dan phosphodiesterase 4D3.^[4]

Organisme model

Fenotipe tikus *Akap9* ko
Karakteristik	Fenotipe
Kelangsungan hidup homozigot	Abnormal
Studi kematian resesif	Normal
Kesuburan	Normal
Berat badan	Abnormal^[6]
Kecemasan	Normal
Penilaian neurologis	Normal
Kekuatan pegangan	Normal
Hot plate	Normal
Dismorfologi	Normal
Kalorimetri tidak langsung	Abnormal^[7]
Tes toleransi glukosa	Abnormal^[8]
Respon batang otak pendengaran	Normal
DEXA	Abnormal^[9]
Radiografi	Abnormal^[10]
Suhu tubuh	Normal
Morfologi mata	Normal
Kimia klinis	Abnormal^[11]
Hematologi	Normal
Limfosit darah perifer	Abnormal
Uji mikronukleus	Normal
Berat jantung	Normal
Histopatologi kulit	Normal
Histopatologi otak	Normal
Histopatologi mata	Normal
Infeksi Salmonella	Normal^[12]
Infeksi Citrobacter	Normal^[13]^[14]
Semua pengujian dan analisis dari^[15]

Model organisme telah digunakan dalam penelitian fungsi AKAP9. Sel tikus kondisional disebut Akap9^{tm1a(KOMP)Wtsi}^[16]^[17] dihasilkan sebagai bagian dari program Konsorsium Internasional Ko Mouse — yaitu protek mutagenesis skala luas untuk menghasilkan dan mendistribusikan hewan model dari penyakit.^[18]^[19]^[20]

Hewan jantan dan betina menjalani standar skrining fenotipikuntuk menentukan efek dari penghapusan gen.^[15]^[21] Dua puluh enam tes yang dilakukan pada mutan tikus terdapat delapan kelainan signifikan yang diamati.^[15] Hanya sedikit tikus homozigot mutan yang bertahan sampai penyapihan. Tes lainnya dilakukan pada mutan homozigot dan heterozigot tikus dewasa. Hewan dari kedua jenis kelamin menunjukkan penurunan lemak tubuh dan berat badan, kelainan hematopoietik dan panel kimia plasma darah yang tidak biasa. Homozigot betina juga menunjukkan morfologi gigi yang abnormal, sementara laki-laki heterozigot hewan menampilkan morfologi panggul korset tulang yang abnormal.^[15]

Interaksi

AKAP9 telah ditunjukkan untuk berinteraksi dengan:

Referensi

^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Yotiao, a novel protein of neuromuscular junction and brain that interacts with specific splice variants of NMDA receptor subunit NR1". J Neurosci. 18 (6): 2017–27. Apr 1998. PMID 9482789.
^ "Regulation of NMDA receptors by an associated phosphatase-kinase signaling complex". Science. 285 (5424): 93–6. Jul 1999. doi:10.1126/science.285.5424.93. PMID 10390370.
^ ^a ^b "Entrez Gene: AKAP9 A kinase (PRKA) anchor protein (yotiao) 9".
^ "Centrosome- and Golgi-Localized Protein Kinase N-Associated Protein Serves As a Docking Platform for Protein Kinase A Signaling and Microtubule Nucleation in Migrating T-Cells". Front. Immunol. 9 (397): 397. Mar 2018. doi:10.3389/fimmu.2018.00397. PMC 5837996  . PMID 29545805.
^ "Body weight data for Akap9". Wellcome Trust Sanger Institute.
^ "Indirect calorimetry data for Akap9". Wellcome Trust Sanger Institute.
^ "Glucose tolerance test data for Akap9". Wellcome Trust Sanger Institute.
^ "DEXA data for Akap9". Wellcome Trust Sanger Institute.
^ "Radiography data for Akap9". Wellcome Trust Sanger Institute.
^ "Clinical chemistry data for Akap9". Wellcome Trust Sanger Institute.
^ "Salmonella infection data for Akap9". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Akap9". Wellcome Trust Sanger Institute.
^
Mouse Portal Sumber Daya, Wellcome Trust Sanger Institute.
^ ^a ^b ^c ^d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
^ "International Knockout Mouse Consortium".
^ "Mouse Genome Informatics".
^ "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. 2011. doi:10.1038/nature10163. PMC 3572410  . PMID 21677750.
^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ "A Mouse for All Reasons". Cell. 128 (1): 9–13. 2007. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
^ "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. 2011. doi:10.1186/gb-2011-12-6-224. PMC 3218837  . PMID 21722353.
^ ^a ^b Takahashi M, Yamagiwa A, Nishimura T, Mukai H, Ono Y (Sep 2002). "Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex". Mol. Biol. Cell. 13 (9): 3235–45. doi:10.1091/mbc.E02-02-0112. PMC 124155  . PMID 12221128.
^ ^a ^b Larocca MC, Shanks RA, Tian L, Nelson DL, Stewart DM, Goldenring JR (Jun 2004). "AKAP350 interaction with cdc42 interacting protein 4 at the Golgi apparatus". Mol. Biol. Cell. 15 (6): 2771–81. doi:10.1091/mbc.E03-10-0757. PMC 420101  . PMID 15047863.
^ Marx SO, Kurokawa J, Reiken S, Motoike H, D'Armiento J, Marks AR, Kass RS (Jan 2002). "Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel". Science. 295 (5554): 496–9. doi:10.1126/science.1066843. PMID 11799244.
^ ^a ^b Takahashi M, Shibata H, Shimakawa M, Miyamoto M, Mukai H, Ono Y (Jun 1999). "Characterization of a novel giant scaffolding protein, CG-NAP, that anchors multiple signaling enzymes to centrosome and the golgi apparatus". J. Biol. Chem. 274 (24): 17267–74. doi:10.1074/jbc.274.24.17267. PMID 10358086.
^ Alto NM, Soderling SH, Hoshi N, Langeberg LK, Fayos R, Jennings PA, Scott JD (Apr 2003). "Bioinformatic design of A-kinase anchoring protein-in silico: a potent and selective peptide antagonist of type II protein kinase A anchoring". Proc. Natl. Acad. Sci. U.S.A. 100 (8): 4445–50. doi:10.1073/pnas.0330734100. PMC 153575  . PMID 12672969.

[1] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9482789-2] "Yotiao, a novel protein of neuromuscular junction and brain that interacts with specific splice variants of NMDA receptor subunit NR1". J Neurosci. 18 (6): 2017–27. Apr 1998. PMID 9482789.

[pmid10390370-3] "Regulation of NMDA receptors by an associated phosphatase-kinase signaling complex". Science. 285 (5424): 93–6. Jul 1999. doi:10.1126/science.285.5424.93. PMID 10390370.

[entrez-4] "Entrez Gene: AKAP9 A kinase (PRKA) anchor protein (yotiao) 9".

[gcnap-5] "Centrosome- and Golgi-Localized Protein Kinase N-Associated Protein Serves As a Docking Platform for Protein Kinase A Signaling and Microtubule Nucleation in Migrating T-Cells". Front. Immunol. 9 (397): 397. Mar 2018. doi:10.3389/fimmu.2018.00397. PMC 5837996  . PMID 29545805.

[Body_weight-6] "Body weight data for Akap9". Wellcome Trust Sanger Institute.

[Indirect_calorimetry-7] "Indirect calorimetry data for Akap9". Wellcome Trust Sanger Institute.

[Glucose_tolerance_test-8] "Glucose tolerance test data for Akap9". Wellcome Trust Sanger Institute.

[DEXA-9] "DEXA data for Akap9". Wellcome Trust Sanger Institute.

[Radiography-10] "Radiography data for Akap9". Wellcome Trust Sanger Institute.

[Clinical_chemistry-11] "Clinical chemistry data for Akap9". Wellcome Trust Sanger Institute.

[''Salmonella''_infection-12] "Salmonella infection data for Akap9". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-13] "Citrobacter infection data for Akap9". Wellcome Trust Sanger Institute.

[14] 
Mouse Portal Sumber Daya, Wellcome Trust Sanger Institute.

[mgp_reference-15] Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.

[allele_ref-16] "International Knockout Mouse Consortium".

[mgi_allele_ref-17] "Mouse Genome Informatics".

[pmid21677750-18] "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. 2011. doi:10.1038/nature10163. PMC 3572410  . PMID 21677750.

[mouse_library-19] Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-20] "A Mouse for All Reasons". Cell. 128 (1): 9–13. 2007. doi:10.1016/j.cell.2006.12.018. PMID 17218247.

[pmid21722353-21] "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. 2011. doi:10.1186/gb-2011-12-6-224. PMC 3218837  . PMID 21722353.

[pmid12221128-22] Takahashi M, Yamagiwa A, Nishimura T, Mukai H, Ono Y (Sep 2002). "Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex". Mol. Biol. Cell. 13 (9): 3235–45. doi:10.1091/mbc.E02-02-0112. PMC 124155  . PMID 12221128.

[pmid15047863-23] Larocca MC, Shanks RA, Tian L, Nelson DL, Stewart DM, Goldenring JR (Jun 2004). "AKAP350 interaction with cdc42 interacting protein 4 at the Golgi apparatus". Mol. Biol. Cell. 15 (6): 2771–81. doi:10.1091/mbc.E03-10-0757. PMC 420101  . PMID 15047863.

[pmid11799244-24] Marx SO, Kurokawa J, Reiken S, Motoike H, D'Armiento J, Marks AR, Kass RS (Jan 2002). "Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel". Science. 295 (5554): 496–9. doi:10.1126/science.1066843. PMID 11799244.

[pmid10358086-25] Takahashi M, Shibata H, Shimakawa M, Miyamoto M, Mukai H, Ono Y (Jun 1999). "Characterization of a novel giant scaffolding protein, CG-NAP, that anchors multiple signaling enzymes to centrosome and the golgi apparatus". J. Biol. Chem. 274 (24): 17267–74. doi:10.1074/jbc.274.24.17267. PMID 10358086.

[pmid12672969-26] Alto NM, Soderling SH, Hoshi N, Langeberg LK, Fayos R, Jennings PA, Scott JD (Apr 2003). "Bioinformatic design of A-kinase anchoring protein-in silico: a potent and selective peptide antagonist of type II protein kinase A anchoring". Proc. Natl. Acad. Sci. U.S.A. 100 (8): 4445–50. doi:10.1073/pnas.0330734100. PMC 153575  . PMID 12672969.

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