AKAP11

AKAP11
Identifiers
Aliases	AKAP11 , AKAP-11, AKAP220, PPP1R44, PRKA11, A-kinase anchoring protein 11
External IDs	OMIM: 604696; MGI: 2684060; HomoloGene: 8279; GeneCards: AKAP11; OMA:AKAP11 - orthologs
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q14.11 Start 42,272,152 bp [1] End 42,323,261 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14|14 D3 Start 78,729,686 bp [2] End 78,774,248 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 46 postcentral gyrus orbitofrontal cortex Pons frontal pole lateral nuclear group of thalamus subthalamic nucleus superior frontal gyrus middle frontal gyrus Region I of hippocampus proper Top expressed in Region I of hippocampus proper substantia nigra olfactory tubercle nucleus of stria terminalis trigeminal ganglion piriform cortex anterior amygdaloid area subiculum ventromedial nucleus lateral septal nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein phosphatase 1 binding protein kinase A binding protein binding Cellular component cytoplasm peroxisome cytoskeleton microtubule organizing center nucleolus cytosol plasma membrane Biological process intracellular signal transduction regulation of protein kinase A signaling protein localization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11215 219181 Ensembl ENSG00000023516 ENSMUSG00000022016 UniProt Q9UKA4 n/a RefSeq (mRNA) NM_016248 NM_144490 NM_001164503 NM_001346784 RefSeq (protein) NP_057332 n/a Location (UCSC) Chr 13: 42.27 – 42.32 Mb Chr 14: 78.73 – 78.77 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

A-kinase anchor protein 11 is an enzyme that in humans is encoded by the AKAP11 gene. ^{[5] [6] [7]}

Function

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. ^[7]

Interactions

AKAP11 has been shown to interact with:

• GSK3B, ^[8]
• PPP1CA, ^{[8] [9]}
• PRKAR2A, ^{[6] [8] [10]}
• PRKAR2B. ^[11]
• VAPB. ^[12] Binding is via a FFAT motif in the N-terminal portion of AKAP11, similar to that found in AKAP3. ^[13]

Role in bipolar disorder

AKAP11 has been identified as a definitive risk gene for bipolar disorder based on a whole-exome study of 13933 patients with bipolar disorder matched with 14422 controls. ^[14]

References

1. GRCh38: Ensembl release 89: ENSG00000023516 – Ensembl, May 2017
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.
5. Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (December 1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (3): 169–76. doi: 10.1093/dnares/5.3.169 . PMID   9734811.
6. Lester LB, Coghlan VM, Nauert B, Scott JD (June 1996). "Cloning and characterization of a novel A-kinase anchoring protein. AKAP 220, association with testicular peroxisomes" (PDF). J. Biol. Chem. 271 (16): 9460–5. doi: 10.1074/jbc.271.16.9460 . PMID   8621616.
7. "Entrez Gene: AKAP11 A kinase (PRKA) anchor protein 11".
8. Tanji C, Yamamoto H, Yorioka N, Kohno N, Kikuchi K, Kikuchi A (October 2002). "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. 277 (40): 36955–61. doi: 10.1074/jbc.M206210200 . PMID   12147701.
9. Schillace RV, Scott JD (March 1999). "Association of the type 1 protein phosphatase PP1 with the A-kinase anchoring protein AKAP220". Curr. Biol. 9 (6): 321–4. Bibcode:1999CBio....9..321S. doi: 10.1016/S0960-9822(99)80141-9 . PMID   10209101.
10. Alto NM, Soderling SH, Hoshi N, Langeberg LK, Fayos R, Jennings PA, Scott JD (April 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. Bibcode:2003PNAS..100.4445A. doi: 10.1073/pnas.0330734100 . PMC   153575 . PMID   12672969.
11. Reinton N, Collas P, Haugen TB, Skâlhegg BS, Hansson V, Jahnsen T, Taskén K (July 2000). "Localization of a novel human A-kinase-anchoring protein, hAKAP220, during spermatogenesis". Dev. Biol. 223 (1): 194–204. doi: 10.1006/dbio.2000.9725 . PMID   10864471.
12. Huttlin EL, Ting L, Bruckner RJ, Gebreab F, Gygi MP, Szpyt J, et al. (2015). "The BioPlex Network: A Systematic Exploration of the Human Interactome". Cell. 162 (2): 425–40. doi:10.1016/j.cell.2015.06.043. PMC   4617211 . PMID   26186194.
13. Mikitova V, Levine TP (2012). "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. 7 (1): e30455. Bibcode:2012PLoSO...730455M. doi: 10.1371/journal.pone.0030455 . PMC   3261905 . PMID   22276202.
14. 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 (2022). "Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia". Nature Genetics. 54: 541--547.

External links

• Human AKAP11 genome location and AKAP11 gene details page in the UCSC Genome Browser .

Further reading

• Lester LB, Scott JD (1997). "Anchoring and scaffold proteins for kinases and phosphatases". Recent Prog. Horm. Res. 52: 409–29, discussion 429–30. PMID   9238861.
• Michel JJ, Scott JD (2002). "AKAP mediated signal transduction". Annu. Rev. Pharmacol. Toxicol. 42: 235–57. doi:10.1146/annurev.pharmtox.42.083101.135801. PMID   11807172.
• Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi: 10.1093/dnares/9.3.99 . PMID   12168954.
• Schillace RV, Scott JD (1999). "Association of the type 1 protein phosphatase PP1 with the A-kinase anchoring protein AKAP220". Curr. Biol. 9 (6): 321–4. Bibcode:1999CBio....9..321S. doi: 10.1016/S0960-9822(99)80141-9 . PMID   10209101.
• Reinton N, Collas P, Haugen TB, Skâlhegg BS, Hansson V, Jahnsen T, Taskén K (2000). "Localization of a novel human A-kinase-anchoring protein, hAKAP220, during spermatogenesis". Dev. Biol. 223 (1): 194–204. doi: 10.1006/dbio.2000.9725 . PMID   10864471.
• Schillace RV, Voltz JW, Sim AT, Shenolikar S, Scott JD (2001). "Multiple interactions within the AKAP220 signaling complex contribute to protein phosphatase 1 regulation". J. Biol. Chem. 276 (15): 12128–34. doi: 10.1074/jbc.M010398200 . PMID   11152471.
• Schillace RV, Andrews SF, Liberty GA, Davey MP, Carr DW (2002). "Identification and characterization of myeloid translocation gene 16b as a novel a kinase anchoring protein in T lymphocytes". J. Immunol. 168 (4): 1590–9. doi: 10.4049/jimmunol.168.4.1590 . PMID   11823486.
• Tanji C, Yamamoto H, Yorioka N, Kohno N, Kikuchi K, Kikuchi A (2002). "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. 277 (40): 36955–61. doi: 10.1074/jbc.M206210200 . PMID   12147701.
• Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.