AKAP11

AKAP11
識別號
別名	AKAP11；, AKAP-11, AKAP220, PPP1R44, PRKA11, A-kinase anchoring protein 11
外部ID	OMIM：604696 MGI：2684060 HomoloGene：8279 GeneCards：AKAP11
基因位置（人類）
染色體	13號染色體
終止	42,323,261 bp
基因位置（小鼠）
染色體	小鼠14號染色體
終止	78,774,248 bp
RNA表現模式
	; ;
	查閱更多表現資料
基因本體
分子功能	• protein phosphatase 1 binding; • protein kinase A binding; • 血漿蛋白結合;
細胞組分	• 細胞質; • 過氧化體; • 細胞骨架; • 微管組織中心; • 核仁; • 細胞質基質; • 細胞膜;
生物學過程	• intracellular signal transduction; • regulation of protein kinase A signaling; • protein localization;
	Sources:Amigo / QuickGO
直系同源
	11215
	219181
	ENSG00000023516
	ENSMUSG00000022016
	Q9UKA4
	無資料
	NM_016248; NM_144490
	NM_001164503; NM_001346784
	NP_057332
	無資料
	維基資料
檢視/編輯人類	檢視/編輯小鼠

人類A-激酶錨定蛋白11是AKAP11基因編碼的蛋白。

A-激酶錨定蛋白（AKAP）是一類結構多樣的蛋白質，它們的共同功能是與蛋白激酶A（PKA）的調節亞基結合，並將全酶限制在細胞內的特定位置。該基因編碼AKAP家族的一個成員。編碼蛋白在精子發生過程中以及成熟精子中高表現。它在睪丸中與PKA的RI和RII亞基結合。除了在精子發生和精子功能中可能發揮的作用外，它還可能參與體細胞和生殖細胞的細胞週期調控。

相互作用

有研究表明AKAP11與下列蛋白有相互作用：

GSK3B；
PPP1CA；^[5]^[6]
PRKAR2A；
PRKAR2B；^[7]
VAPB。^[8] 與AKAP3類似，AKAP11通過其胺基端與FFAT基序結合。^[9]

在躁鬱症中的作用

基於對13933位躁鬱症病人和14422位對照正常人的全外顯子研究，AKAP11已被確認是雙相障礙確定危險基因。 ^[10]

^ ^1.0 ^1.1 ^1.2 GRCh38: Ensembl release 89: ENSG00000023516 - Ensembl, May 2017
^ ^2.0 ^2.1 ^2.2 GRCm38: Ensembl release 89: ENSMUSG00000022016 - Ensembl, May 2017
^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Tanji C, Yamamoto H, Yorioka N, Kohno N, Kikuchi K, Kikuchi A. A-kinase anchoring protein AKAP220 binds to glycogen synthase kinase-3beta (GSK-3beta ) and mediates protein kinase A-dependent inhibition of GSK-3beta. J. Biol. Chem. October 2002, 277 (40): 36955–61. PMID 12147701. doi:10.1074/jbc.M206210200 .
^ Schillace RV, Scott JD. Association of the type 1 protein phosphatase PP1 with the A-kinase anchoring protein AKAP220. Curr. Biol. March 1999, 9 (6): 321–4. Bibcode:1999CBio....9..321S. PMID 10209101. doi:10.1016/S0960-9822(99)80141-9 .
^ Reinton N, Collas P, Haugen TB, Skâlhegg BS, Hansson V, Jahnsen T, Taskén K. Localization of a novel human A-kinase-anchoring protein, hAKAP220, during spermatogenesis. Dev. Biol. July 2000, 223 (1): 194–204. PMID 10864471. doi:10.1006/dbio.2000.9725 .
^ Huttlin EL, Ting L, Bruckner RJ, Gebreab F, Gygi MP, Szpyt J, et al. The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell. 2015, 162 (2): 425–40. PMC 4617211 . PMID 26186194. doi:10.1016/j.cell.2015.06.043.
^ Mikitova V, Levine TP. Analysis of the key elements of FFAT-like motifs identifies new proteins that potentially bind VAP on the ER, including two AKAPs and FAPP2.. PLOS ONE. 2012, 7 (1). Bibcode:2012PLoSO...730455M. PMC 3261905 . PMID 22276202. doi:10.1371/journal.pone.0030455 . 已忽略未知參數|article-number= (幫助)
^ Palmer DS, Howrigan DP, Chapman SB, Adolfsson R, Bass N, Blackwood D, Boks MP, Chen CY, Churchhouse C, Corvin AP, Craddock N, Curtis D, Di Florio A, Dickerson F, Freimer NB, Goes FS, Jia X, Jones I, Jones L, Jonsson L, Kahn RS, Landén M, Locke AE, McIntosh AM, McQuillin A, Morris DW, O'Donovan MC, Ophoff RA, Owen MJ, Pedersen NL, Posthuma D, Reif A, Risch N, Schaefer C, Scott L, Singh T, Smoller JW, Solomonson M, St Clair D, Stahl EA, Vreeker A, Walters JT, Wang W, Watts A, Yolken R, Zandi PP, Neale BM. Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia. Nature Genetics. 2022, 54: 541––547.

[refGRCh38Ensembl-1] 1.0 ^1.1 ^1.2 GRCh38: Ensembl release 89: ENSG00000023516 - Ensembl, May 2017

[refGRCm38Ensembl-2] 2.0 ^2.1 ^2.2 GRCm38: Ensembl release 89: ENSMUSG00000022016 - Ensembl, May 2017

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

[4] Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12147701-5] Tanji C, Yamamoto H, Yorioka N, Kohno N, Kikuchi K, Kikuchi A. A-kinase anchoring protein AKAP220 binds to glycogen synthase kinase-3beta (GSK-3beta ) and mediates protein kinase A-dependent inhibition of GSK-3beta. J. Biol. Chem. October 2002, 277 (40): 36955–61. PMID 12147701. doi:10.1074/jbc.M206210200 .

[pmid10209101-6] Schillace RV, Scott JD. Association of the type 1 protein phosphatase PP1 with the A-kinase anchoring protein AKAP220. Curr. Biol. March 1999, 9 (6): 321–4. Bibcode:1999CBio....9..321S. PMID 10209101. doi:10.1016/S0960-9822(99)80141-9 .

[pmid10864471-7] Reinton N, Collas P, Haugen TB, Skâlhegg BS, Hansson V, Jahnsen T, Taskén K. Localization of a novel human A-kinase-anchoring protein, hAKAP220, during spermatogenesis. Dev. Biol. July 2000, 223 (1): 194–204. PMID 10864471. doi:10.1006/dbio.2000.9725 .

[pmid26186194-8] Huttlin EL, Ting L, Bruckner RJ, Gebreab F, Gygi MP, Szpyt J, et al. The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell. 2015, 162 (2): 425–40. PMC 4617211 . PMID 26186194. doi:10.1016/j.cell.2015.06.043.

[pmid22276202-9] Mikitova V, Levine TP. Analysis of the key elements of FFAT-like motifs identifies new proteins that potentially bind VAP on the ER, including two AKAPs and FAPP2.. PLOS ONE. 2012, 7 (1). Bibcode:2012PLoSO...730455M. PMC 3261905 . PMID 22276202. doi:10.1371/journal.pone.0030455 . 已忽略未知參數|article-number= (幫助)

[palmer2022-10] Palmer DS, Howrigan DP, Chapman SB, Adolfsson R, Bass N, Blackwood D, Boks MP, Chen CY, Churchhouse C, Corvin AP, Craddock N, Curtis D, Di Florio A, Dickerson F, Freimer NB, Goes FS, Jia X, Jones I, Jones L, Jonsson L, Kahn RS, Landén M, Locke AE, McIntosh AM, McQuillin A, Morris DW, O'Donovan MC, Ophoff RA, Owen MJ, Pedersen NL, Posthuma D, Reif A, Risch N, Schaefer C, Scott L, Singh T, Smoller JW, Solomonson M, St Clair D, Stahl EA, Vreeker A, Walters JT, Wang W, Watts A, Yolken R, Zandi PP, Neale BM. Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia. Nature Genetics. 2022, 54: 541––547.

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