AKAP9 (A kinase (PRKA) anchor protein (yotiao) 9)
2007-04-01 Raffaele Ciampi , Yuri E Nikiforov AffiliationDip. di Endocrinologia e Metabolismo, Università di Pisa, via Paradisa, 2, 56124 Pisa, Italy
Identity
HGNC
LOCATION
7q21.2
LOCUSID
ALIAS
AKAP-9,AKAP350,AKAP450,CG-NAP,HYPERION,LQT11,MU-RMS-40.16A,PPP1R45,PRKA9,YOTIAO
FUSION GENES
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).
Proteins
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 name
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15630448 | 2005 | Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer. | Ciampi R et al |
| 10712918 | 2000 | A-kinase anchoring proteins: protein kinase A and beyond. | Edwards AS et al |
| 11263498 | 2000 | The PACT domain, a conserved centrosomal targeting motif in the coiled-coil proteins AKAP450 and pericentrin. | Gillingham AK et al |
| 9915845 | 1999 | AKAP350, a multiply spliced protein kinase A-anchoring protein associated with centrosomes. | Schmidt PH et al |
| 12221128 | 2002 | Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex. | Takahashi M et al |
| 10202149 | 1999 | Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450. | Witczak O et al |
Other Information
Locus ID:
NCBI: 10142
MIM: 604001
HGNC: 379
Ensembl: ENSG00000127914
Variants:
dbSNP: 10142
ClinVar: 10142
TCGA: ENSG00000127914
COSMIC: AKAP9
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38203733 | 2024 | Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid Lesions: Implications for Differential Diagnosis and Prognosis of Thyroid Carcinomas. | 0 |
| 38657442 | 2024 | A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein. | 0 |
| 38203733 | 2024 | Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid Lesions: Implications for Differential Diagnosis and Prognosis of Thyroid Carcinomas. | 0 |
| 38657442 | 2024 | A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein. | 0 |
| 35567427 | 2022 | Alzheimer's disease associated AKAP9 I2558M mutation alters posttranslational modification and interactome of tau and cellular functions in CRISPR-edited human neuronal cells. | 4 |
| 35567427 | 2022 | Alzheimer's disease associated AKAP9 I2558M mutation alters posttranslational modification and interactome of tau and cellular functions in CRISPR-edited human neuronal cells. | 4 |
| 32028718 | 2020 | A-Kinase Anchoring Proteins Diminish TGF-β(1)/Cigarette Smoke-Induced Epithelial-To-Mesenchymal Transition. | 10 |
| 32028718 | 2020 | A-Kinase Anchoring Proteins Diminish TGF-β(1)/Cigarette Smoke-Induced Epithelial-To-Mesenchymal Transition. | 10 |
| 29464327 | 2018 | Unclassified sclerosing malignant melanomas with AKAP9-BRAF gene fusion: a report of two cases and review of BRAF fusions in melanocytic tumors. | 6 |
| 29516269 | 2018 | Tau Phosphorylation is Impacted by Rare AKAP9 Mutations Associated with Alzheimer Disease in African Americans. | 15 |
| 29545805 | 2018 | 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. | 15 |
| 29464327 | 2018 | Unclassified sclerosing malignant melanomas with AKAP9-BRAF gene fusion: a report of two cases and review of BRAF fusions in melanocytic tumors. | 6 |
| 29516269 | 2018 | Tau Phosphorylation is Impacted by Rare AKAP9 Mutations Associated with Alzheimer Disease in African Americans. | 15 |
| 29545805 | 2018 | 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. | 15 |
| 29054927 | 2017 | The C-terminal region of A-kinase anchor protein 350 (AKAP350A) enables formation of microtubule-nucleation centers and interacts with pericentriolar proteins. | 8 |
Citation
Raffaele Ciampi ; Yuri E Nikiforov
AKAP9 (A kinase (PRKA) anchor protein (yotiao) 9)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/42999/akap9
