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

2007-04-01   Raffaele Ciampi , Yuri E Nikiforov 

Dip. 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.

Bibliography

Pubmed IDLast YearTitleAuthors
156304482005Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer.Ciampi R et al
107129182000A-kinase anchoring proteins: protein kinase A and beyond.Edwards AS et al
112634982000The PACT domain, a conserved centrosomal targeting motif in the coiled-coil proteins AKAP450 and pericentrin.Gillingham AK et al
99158451999AKAP350, a multiply spliced protein kinase A-anchoring protein associated with centrosomes.Schmidt PH et al
122211282002Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex.Takahashi M et al
102021491999Cloning 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

Gene IDTranscript IDUniprot
ENSG00000127914ENST00000356239Q99996
ENSG00000127914ENST00000358100A0A0A0MRE9
ENSG00000127914ENST00000359028A0A0A0MRF6
ENSG00000127914ENST00000394534H7BYL6
ENSG00000127914ENST00000394564Q6PJH3
ENSG00000127914ENST00000435423H0Y6Q0
ENSG00000127914ENST00000438114H7BZV6
ENSG00000127914ENST00000491695A0A2R8Y590
ENSG00000127914ENST00000619023A0A087WX84

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Activation of NMDA receptor upon glutamate binding and postsynaptic eventsREACTOMER-HSA-442755
Unblocking of NMDA receptor, glutamate binding and activationREACTOMER-HSA-438066
Post NMDA receptor activation eventsREACTOMER-HSA-438064
CREB phosphorylation through the activation of RasREACTOMER-HSA-442742
Ras activation uopn Ca2+ infux through NMDA receptorREACTOMER-HSA-442982
CREB phosphorylation through the activation of CaMKIIREACTOMER-HSA-442729
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
RAF/MAP kinase cascadeREACTOMER-HSA-5673001
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated MAPK activationREACTOMER-HSA-2871796
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-2 signalingREACTOMER-HSA-451927
Interleukin receptor SHC signalingREACTOMER-HSA-912526
Interleukin-3, 5 and GM-CSF signalingREACTOMER-HSA-512988
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
GRB2 events in EGFR signalingREACTOMER-HSA-179812
SHC1 events in EGFR signalingREACTOMER-HSA-180336
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor signalling cascadeREACTOMER-HSA-74751
IRS-mediated signallingREACTOMER-HSA-112399
SOS-mediated signallingREACTOMER-HSA-112412
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Signalling to ERKsREACTOMER-HSA-187687
Signalling to RASREACTOMER-HSA-167044
Signalling to p38 via RIT and RINREACTOMER-HSA-187706
Prolonged ERK activation eventsREACTOMER-HSA-169893
Frs2-mediated activationREACTOMER-HSA-170968
ARMS-mediated activationREACTOMER-HSA-170984
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated cell proliferationREACTOMER-HSA-5218921
Signaling by SCF-KITREACTOMER-HSA-1433557
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK1/MAPK3 signalingREACTOMER-HSA-5684996
Signaling by GPCRREACTOMER-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)REACTOMER-HSA-2404192
IGF1R signaling cascadeREACTOMER-HSA-2428924
IRS-related events triggered by IGF1RREACTOMER-HSA-2428928
Signaling by LeptinREACTOMER-HSA-2586552
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
Cardiac conductionREACTOMER-HSA-5576891
Phase 2 - plateau phaseREACTOMER-HSA-5576893
Phase 3 - rapid repolarisationREACTOMER-HSA-5576890
AURKA Activation by TPX2REACTOMER-HSA-8854518
RET signalingREACTOMER-HSA-8853659
Oncogenic MAPK signalingREACTOMER-HSA-6802957
Signaling by BRAF and RAF fusionsREACTOMER-HSA-6802952

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
117992442002Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel.234
192424902009Microtubule nucleation at the cis-side of the Golgi apparatus requires AKAP450 and GM130.126
180939122007Mutation of an A-kinase-anchoring protein causes long-QT syndrome.116
156304482005Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer.95
122211282002Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex.85
254469872015MALAT1 promotes colorectal cancer cell proliferation/migration/invasion via PRKA kinase anchor protein 9.83
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
216062062011Disconnecting the Golgi ribbon from the centrosome prevents directional cell migration and ciliogenesis.60
122707142002Centrosomal anchoring of the protein kinase CK1delta mediated by attachment to the large, coiled-coil scaffolding protein CG-NAP/AKAP450.45
167411612006Variants in the GH-IGF axis confer susceptibility to lung cancer.41

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