| Identity |
| Other names | AKAP350 |
| AKAP450 | |
| CG-NAP | |
| HYPERION | |
| KIAA0803 | |
| MU-RMS-40.16A | |
| PRKA9 | |
| YOTIAO | |
| Hugo | AKAP9 |
| Location | 7q21.2 |
| DNA/RNA |
| Description | AKAP9 gene consists of 51 encoding exons with a total gene size of 169797 bp. |
| Transcription | The AKAP9 transcript has an open reading frame (ORF) of 11724 bp. Four different transcript variants have been identified (NM147171, NM005751, NM147185, NM147166). |
| Protein |
| Description | The 11.7 kb ORF encodes for a 3908 aa protein with a predicted size of 453 kDa. Four different protein products have been described (NP005742.4, NP671695.1, NP671700.1, NP671714.1). |
| Localisation | Centrosomes, Golgi apparatus. |
| Function | AKAP9 belongs to the family of A-Kinase Anchor Proteins (AKAPs), which are scaffold proteins able to bind the type II regulatory subunit (RII) of cAMP dependent Protein Kinase A (PKA) and several other protein kinases and phosphatases and to anchor them to specific intracellular compartments. AKAP9 shows centrosome and Golgi compartmentalization. Various splice variants of the transcript are found in different human tissues. The AKAP9 protein contains the PKA binding domain, a large coiled-coil domain and C-terminal centrosome binding domain. |
| Implicated in |
| Entity | Papillary Thyroid Carcinoma (PTC) |
| Cytogenetics | inv(7)(q21-22q34) with AKAP9-BRAF fusion |
| Breakpoints |
| Note | Breakpoint in AKAP9-BRAF fusion is located within intron 8 of the gene. In this fusion, exons 1-8 of AKAP9 are fused with last 10 exons 9-18 of BRAF. In the fusion, AKAP9 lacks the centrosome binding domain and, as a result, the AKAP9-BRAF protein looses its cytoplasmic compartmentalization and appears to be diffusely distributed in the cytoplasm, as detected by immunofluorescence. |
| External links |
| Bibliography |
| AKAP350, a multiply spliced protein kinase A-anchoring protein associated with centrosomes. |
| Schmidt PH, Dransfield DT, Claudio JO, Hawley RG, Trotter KW, Milgram SL, Goldenring JR |
| The Journal of biological chemistry. 1999 ; 274 (5) : 3055-3066. |
| PMID 9915845 |
| Characterization of a novel giant scaffolding protein, CG-NAP, that anchors multiple signaling enzymes to centrosome and the golgi apparatus. |
| Takahashi M, Shibata H, Shimakawa M, Miyamoto M, Mukai H, Ono Y |
| The Journal of biological chemistry. 1999 ; 274 (24) : 17267-17274. |
| PMID 10358086 |
| Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450. |
| Witczak O, Skˆ€lhegg BS, Keryer G, Bornens M, Taskˆ©n K, Jahnsen T, Orstavik S |
| The EMBO journal. 1999 ; 18 (7) : 1858-1868. |
| PMID 10202149 |
| A-kinase anchoring proteins: protein kinase A and beyond. |
| Edwards AS, Scott JD |
| Current opinion in cell biology. 2000 ; 12 (2) : 217-221. |
| PMID 10712918 |
| The PACT domain, a conserved centrosomal targeting motif in the coiled-coil proteins AKAP450 and pericentrin. |
| Gillingham AK, Munro S |
| EMBO reports. 2000 ; 1 (6) : 524-529. |
| PMID 11263498 |
| Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex. |
| Takahashi M, Yamagiwa A, Nishimura T, Mukai H, Ono Y |
| Molecular biology of the cell. 2002 ; 13 (9) : 3235-3245. |
| PMID 12221128 |
| Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer. |
| Ciampi R, Knauf JA, Kerler R, Gandhi M, Zhu Z, Nikiforova MN, Rabes HM, Fagin JA, Nikiforov YE |
| The Journal of clinical investigation. 2005 ; 115 (1) : 94-101. |
| PMID 15630448 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 04-2007 | Raffaele Ciampi, Yuri E Nikiforov |
| Dip. di Endocrinologia e Metabolismo, Università di Pisa, via Paradisa, 2, 56124 Pisa, Italy. |
| Citation |
| This paper should be referenced as such : |
| Ciampi R, Nikiforov YE . AKAP9 (A kinase (PRKA) anchor protein (yotiao) 9). Atlas Genet Cytogenet Oncol Haematol. April 2007 . URL : http://AtlasGeneticsOncology.org/Genes/AKAP9ID42999ch7q21.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Jul 2 08:21:42 2008 |
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