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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

Alias (NCBI)AKAP350
AKAP450
CG-NAP
HYPERION
KIAA0803
MU-RMS-40.16A
PRKA9
YOTIAO
HGNC (Hugo) AKAP9
HGNC Alias symbKIAA0803
AKAP350
AKAP450
CG-NAP
YOTIAO
HYPERION
PRKA9
MU-RMS-40.16A
PPP1R45
LQT11
HGNC Alias nameA-kinase anchoring protein 450
 AKAP9-BRAF fusion protein
 AKAP120-like protein
 centrosome- and golgi-localized protein kinase N-associated protein
 protein kinase A anchoring protein 9
 A-kinase anchor protein, 350kDa
 protein phosphatase 1, regulatory subunit 45
 yotiao
HGNC Previous nameA kinase (PRKA) anchor protein 9
LocusID (NCBI) 10142
Atlas_Id 42999
Location 7q21.2  [Link to chromosome band 7q21]
Location_base_pair Starts at 91940862 and ends at 92110673 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping AKAP9.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AKAP9 (7q21.2) / AKAP9 (7q21.2)AKAP9 (7q21.2) / BRAF (7q34)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) / SLC45A2 (5p13.2)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 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 ]


External links

Nomenclature
HGNC (Hugo)AKAP9   379
LRG (Locus Reference Genomic)LRG_331
Cards
AtlasAKAP9ID42999ch7q21
Entrez_Gene (NCBI)AKAP9    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]
Ensembl hg38 (Hinxton)ENSG00000127914 [Gene_View]  ENSG00000127914 [Sequence]  chr7:91940862-92110673 [Contig_View]  AKAP9 [Vega]
ICGC DataPortalENSG00000127914
TCGA cBioPortalAKAP9
AceView (NCBI)AKAP9
Genatlas (Paris)AKAP9
SOURCE (Princeton)AKAP9
Genetics Home Reference (NIH)AKAP9
Genomic and cartography
GoldenPath hg38 (UCSC)AKAP9  -     chr7:91940862-92110673 +  7q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AKAP9  -     7q21.2   [Description]    (hg19-Feb_2009)
GoldenPathAKAP9 - 7q21.2 [CytoView hg19]  AKAP9 - 7q21.2 [CytoView hg38]
ImmunoBaseENSG00000127914
genome Data Viewer NCBIAKAP9 [Mapview hg19]  
OMIM604001   611820   
Gene and transcription
Genbank (Entrez)AB018346 AB019691 AF026245 AF083037 AF091711
RefSeq transcript (Entrez)NM_001379277 NM_005751 NM_147166 NM_147171 NM_147185
Consensus coding sequences : CCDS (NCBI)AKAP9
Alternative Splicing GalleryENSG00000127914
Gene ExpressionAKAP9 [ NCBI-GEO ]   AKAP9 [ EBI - ARRAY_EXPRESS ]   AKAP9 [ SEEK ]   AKAP9 [ MEM ]
Gene Expression Viewer (FireBrowse)AKAP9 [ Firebrowse - Broad ]
GenevisibleExpression of AKAP9 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10142
GTEX Portal (Tissue expression)AKAP9
Human Protein AtlasENSG00000127914-AKAP9 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)AKAP9
Human Protein Atlas [tissue]ENSG00000127914-AKAP9 [tissue]
HPRD04921
Protein Interaction databases
BioGRIDAKAP9
STRING (EMBL)AKAP9
ZODIACAKAP9
Ontologies - Pathways
Litterature
PubMed118 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAKAP9
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Sep 15 23:39:52 CEST 2021

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