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FLASH GENE

Symbol

AKAP9

contributors: mct/pgu - updated : 18-08-2015

HGNC name	a kinase (PRKA) anchor protein (yotiao) 9
HGNC id	379

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	at least four transcripts

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 50 - 12474 450 3911 - 2007 18093912 NM_147185 50 - 12439 isoform 3 - 3899 - 2007 18093912 multiple coding difference compared to variant 1 NM_005751 50 - 12463 isoform 2 - 3907 - 2007 18093912 multiple coding differences compared to variant 1 variant 4 19 - 6058 isoform 4 - 1655 - 2007 18093912 containing mostly the 5' exons

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas         Nervous brain hindbrain cerebellum       brain forebrain cerebral cortex     Reproductive female system breast mammary gland   highly Respiratory respiratory tract larynx     highly   respiratory tract trachea     highly Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an amphipathic helix binding domain
	a LIZ domain
	two sets of putative RII (regulatory subunit of protein kinase A) binding motif
	two KCNQ1 binding domains

HOMOLOGY

Homologene

FAMILY

AKAP family

CATEGORY

chaperone/stress , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text	specifically concentrated at the neuromuscular junction in skeletal muscle
	localizes both at the Golgi and at the centrosome
	AKAP9 spans the bridge between centrioles, co-localizing with CROCC and CEP68 in the linker region
	localization of AKAP9 at the centrosome has been shown to be required for centrosome integrity and centriole duplication

basic FUNCTION	A kinase PRKA regulatory subunit (RIIA) anchor protein tethering enzymes near their physiological substrate
	scaffolding at the centrosome and the Golgi apparatus a number of protein kinases such as CSKN1D, CSKN1E, PKN1, PRKAR2A, PRKAR2B,PRKCE and phosphatases such as PPP1CA, PPP2RA, PPP2R1B NMDA receptor GRIN1
	recruited to the LAF-1 associated molecular complex (ITGAL), critical for polarization and migration of T cells
	promoting the association of neuronal ITPR1 to the NR1 NMDA receptor GRIN1
	important players in the nucleation of microtubules at the Golgi apparatus (
	has a role in cell migration rather than in cell polarisation of the centrosome/Golgi apparatus (
	key roles in the organization and activation of receptor molecules at the immune synapse during T-cell signaling events
	facilitates the microtubule polymerization rate in endothelial cells
	PRKACA and PDE4D anchoring to AKAP9 provides distinct regulation of cAMP signals at the centrosome
	acts as a scaffold for factors involved in microtubule nucleation at the centrosome and coordinates the assembly of protein complexes associating with the intercentriolar bridge

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

neurotransmission , signal transduction

a component

complexing with kendrin (PCNT) and associating with TUBG1 and TUBG2

INTERACTION

DNA

RNA

small molecule

protein	binding to a leucine zipper motif of KCNQ1 (for sympathetic nervous system (SNS) regulation of cardiac action potential duration (APD), mediated by alpha-adrenergic receptor activation)
	binding and potentially involved in cytoskeletal attachment of NMDA receptor GRIN1
	attaching protein type I protein phosphatase and cAMP dependent PRKA to the NMDA receptor GRIN1
	TSNAX
	binding to CIP4 (TRIP10) and to FNBP1, influencing the maintenance of Golgi apparatus
	binding to ion channel CLIC1 at the Golgi apparatus
	responsible for the sequestration of TACC4 at centrosome during interphase
	interacting with GOLGA2 (recruitment of AKAP9 on the Golgi membranes through GOLGA2 allows centrosome-associated nucleating activity to extend to the Golgi, to control the assembly of subsets of microtubules ensuring specific functions within the Golgi or for transporting specific cargos to the cell periphery) (
	microtubule dependent association of AKAP9 and CCAR1 with RNA stress granules
	CEP72 is essential for the localization of AKAP9 and KIZ
	interaction with RAPGEF3 (required for RAPGEF3-stimulated microtubule growth)
	GOLGA2 binding to the A-kinase anchoring protein AKAP9 participates in the regulation of microtubule nucleation on cis-Golgi membranes
	CEP68 interacts with the distal C-terminal AKAP9 region

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LQT11

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     AKAP9-BRAF fusion promoting MAPK pathway activation in radiation induced thyroid cancer

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS