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AKAP9 (A kinase (PRKA) anchor protein (yotiao) 9)

Written2007-04Raffaele Ciampi, Yuri E Nikiforov
Dip. di Endocrinologia e Metabolismo, Università di Pisa, via Paradisa, 2, 56124 Pisa, Italy

(Note : for Links provided by Atlas : click)

Identity

Other namesAKAP350
AKAP450
CG-NAP
HYPERION
KIAA0803
MU-RMS-40.16A
PRKA9
YOTIAO
HGNC (Hugo) AKAP9
LocusID (NCBI) 10142
Atlas_Id 42999
Location 7q21.2  [Link to chromosome band 7q21]
Location_base_pair Starts at 91570189 and ends at 91739987 bp from pter ( according to hg19-Feb_2009)  [Mapping AKAP9.png]
Fusion genes
(updated 2016)
AKAP9 (7q21.2) / AKAP9 (7q21.2)AKAP9 (7q21.2) / BRAF (7q34)AKAP9 (7q21.2) / C21orf62-AS1 (21q22.11)
AKAP9 (7q21.2) / CDK14 (7q21.13)AKAP9 (7q21.2) / GALNT13 (2q23.3)AKAP9 (7q21.2) / GNS (12q14.3)
AKAP9 (7q21.2) / NADK2 (5p13.2)AKAP9 (7q21.2) / RUNX1 (21q22.12)AKAP9 (7q21.2) / TRPS1 (8q23.3)
BRAF (7q34) / AKAP9 (7q21.2)SCARF2 (22q11.21) / AKAP9 (7q21.2)SCMH1 (1p34.2) / AKAP9 (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

Note
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.

Bibliography

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
 
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
 
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
 
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
 
Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450.
Witczak O, Skålhegg BS, Keryer G, Bornens M, Taskén K, Jahnsen T, Orstavik S
The EMBO journal. 1999 ; 18 (7) : 1858-1868.
PMID 10202149
 

Citation

This paper should be referenced as such :
Ciampi, Raffaele ; Nikiforov, Yuri E
AKAP9 (A kinase (PRKA) anchor protein (yotiao) 9)
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4):264-265.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/AKAP9ID42999ch7q21.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Thyroid: Papillary Carcinoma with inv(7)(q21q34) AKAP9/BRAF
Thyroid: Papillary carcinoma/Adenocarcinoma

External links

Nomenclature
HGNC (Hugo)AKAP9   379
Cards
AtlasAKAP9ID42999ch7q21
Entrez_Gene (NCBI)AKAP9  10142  A-kinase anchoring protein 9
AliasesAKAP-9; AKAP350; AKAP450; CG-NAP; 
HYPERION; LQT11; MU-RMS-40.16A; PPP1R45; PRKA9; YOTIAO
GeneCards (Weizmann)AKAP9
Ensembl hg19 (Hinxton)ENSG00000127914 [Gene_View]  chr7:91570189-91739987 [Contig_View]  AKAP9 [Vega]
Ensembl hg38 (Hinxton)ENSG00000127914 [Gene_View]  chr7:91570189-91739987 [Contig_View]  AKAP9 [Vega]
ICGC DataPortalENSG00000127914
TCGA cBioPortalAKAP9
AceView (NCBI)AKAP9
Genatlas (Paris)AKAP9
WikiGenes10142
SOURCE (Princeton)AKAP9
Genomic and cartography
GoldenPath hg19 (UCSC)AKAP9  -     chr7:91570189-91739987 +  7q21-q22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AKAP9  -     7q21-q22   [Description]    (hg38-Dec_2013)
EnsemblAKAP9 - 7q21-q22 [CytoView hg19]  AKAP9 - 7q21-q22 [CytoView hg38]
Mapping of homologs : NCBIAKAP9 [Mapview hg19]  AKAP9 [Mapview hg38]
OMIM604001   611820   
Gene and transcription
Genbank (Entrez)AB018346 AB019691 AF026245 AF083037 AF091711
RefSeq transcript (Entrez)NM_005751 NM_147166 NM_147171 NM_147185
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_011623 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)AKAP9
Cluster EST : UnigeneHs.651221 [ NCBI ]
CGAP (NCI)Hs.651221
Alternative Splicing GalleryENSG00000127914
Gene ExpressionAKAP9 [ NCBI-GEO ]   AKAP9 [ EBI - ARRAY_EXPRESS ]   AKAP9 [ SEEK ]   AKAP9 [ MEM ]
Gene Expression Viewer (FireBrowse)AKAP9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10142
GTEX Portal (Tissue expression)AKAP9
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99996 (Uniprot)
NextProtQ99996  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99996
Splice isoforms : SwissVarQ99996 (Swissvar)
PhosPhoSitePlusQ99996
Domains : Interpro (EBI)AKAP9    PACT_domain   
Domain families : Pfam (Sanger)PACT_coil_coil (PF10495)   
Domain families : Pfam (NCBI)pfam10495   
DMDM Disease mutations10142
Blocks (Seattle)AKAP9
SuperfamilyQ99996
Human Protein AtlasENSG00000127914
Peptide AtlasQ99996
HPRD04921
IPIIPI00019223   IPI00220625   IPI00793082   IPI00220627   IPI00220628   IPI00790103   IPI01010188   IPI00220624   IPI00902900   IPI00386927   IPI00926278   
Protein Interaction databases
DIP (DOE-UCLA)Q99996
IntAct (EBI)Q99996
FunCoupENSG00000127914
BioGRIDAKAP9
STRING (EMBL)AKAP9
ZODIACAKAP9
Ontologies - Pathways
QuickGOQ99996
Ontology : AmiGOG2/M transition of mitotic cell cycle  MAPK cascade  Ras guanyl-nucleotide exchange factor activity  receptor binding  protein binding  Golgi apparatus  Golgi stack  cis-Golgi network  centrosome  cytosol  cytoskeleton  transport  microtubule nucleation  signal transduction  synaptic transmission  voltage-gated potassium channel complex  potassium channel regulator activity  protein complex scaffold  positive regulation of peptidyl-serine phosphorylation  protein kinase A regulatory subunit binding  intracellular membrane-bounded organelle  positive regulation of GTPase activity  ion channel binding  regulation of membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  cardiac conduction  cellular response to cAMP  regulation of heart rate by cardiac conduction  positive regulation of potassium ion transmembrane transporter activity  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  MAPK cascade  Ras guanyl-nucleotide exchange factor activity  receptor binding  protein binding  Golgi apparatus  Golgi stack  cis-Golgi network  centrosome  cytosol  cytoskeleton  transport  microtubule nucleation  signal transduction  synaptic transmission  voltage-gated potassium channel complex  potassium channel regulator activity  protein complex scaffold  positive regulation of peptidyl-serine phosphorylation  protein kinase A regulatory subunit binding  intracellular membrane-bounded organelle  positive regulation of GTPase activity  ion channel binding  regulation of membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  cardiac conduction  cellular response to cAMP  regulation of heart rate by cardiac conduction  positive regulation of potassium ion transmembrane transporter activity  
Pathways : BIOCARTAProtein Kinase A at the Centrosome [Genes]   
REACTOMEQ99996 [protein]
REACTOME PathwaysR-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome [pathway]
REACTOME PathwaysR-HSA-5673001 RAF/MAP kinase cascade [pathway]
REACTOME PathwaysR-HSA-380259 Loss of Nlp from mitotic centrosomes [pathway]
REACTOME PathwaysR-HSA-442729 CREB phosphorylation through the activation of CaMKII [pathway]
REACTOME PathwaysR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition [pathway]
REACTOME PathwaysR-HSA-5620912 Anchoring of the basal body to the plasma membrane [pathway]
REACTOME PathwaysR-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation [pathway]
REACTOME PathwaysR-HSA-380270 Recruitment of mitotic centrosome proteins and complexes [pathway]
REACTOME PathwaysR-HSA-442982 Ras activation uopn Ca2+ infux through NMDA receptor [pathway]
NDEx NetworkAKAP9
Atlas of Cancer Signalling NetworkAKAP9
Wikipedia pathwaysAKAP9
Orthology - Evolution
OrthoDB10142
GeneTree (enSembl)ENSG00000127914
Phylogenetic Trees/Animal Genes : TreeFamAKAP9
Homologs : HomoloGeneAKAP9
Homology/Alignments : Family Browser (UCSC)AKAP9
Gene fusions - Rearrangements
Fusion : MitelmanAKAP9/BRAF [7q21.2/7q34]  
Fusion : MitelmanAKAP9/RUNX1 [7q21.2/21q22.12]  [t(7;21)(q21;q22)]  
Fusion : COSMICBRAF [7q34]  -  AKAP9 [7q21.2]  [fusion_1015]  [fusion_1016]  
Fusion: TCGAAKAP9 7q21.2 RUNX1 21q22.12 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerAKAP9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKAP9
dbVarAKAP9
ClinVarAKAP9
1000_GenomesAKAP9 
Exome Variant ServerAKAP9
ExAC (Exome Aggregation Consortium)AKAP9 (select the gene name)
Genetic variants : HAPMAP10142
Genomic Variants (DGV)AKAP9 [DGVbeta]
Mutations
ICGC Data PortalAKAP9 
TCGA Data PortalAKAP9 
Broad Tumor PortalAKAP9
OASIS PortalAKAP9 [ Somatic mutations - Copy number]
Cancer Gene: CensusAKAP9 
Somatic Mutations in Cancer : COSMICAKAP9 
intOGen PortalAKAP9
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BioMutasearch AKAP9
DgiDB (Drug Gene Interaction Database)AKAP9
DoCM (Curated mutations)AKAP9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AKAP9 (select a term)
intoGenAKAP9
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:91570189-91739987  ENSG00000127914
CONAN: Copy Number AnalysisAKAP9 
Mutations and Diseases : HGMDAKAP9
OMIM604001    611820   
MedgenAKAP9
Genetic Testing Registry AKAP9
NextProtQ99996 [Medical]
TSGene10142
GENETestsAKAP9
Huge Navigator AKAP9 [HugePedia]
snp3D : Map Gene to Disease10142
BioCentury BCIQAKAP9
ClinGenAKAP9 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10142
Chemical/Pharm GKB GenePA24673
Clinical trialAKAP9
Miscellaneous
canSAR (ICR)AKAP9 (select the gene name)
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKAP9
EVEXAKAP9
GoPubMedAKAP9
iHOPAKAP9
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 19:36:34 CEST 2016

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