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FLASH GENE

Symbol

AKAP13

contributors: mct/npt - updated : 12-10-2017

HGNC name	a kinase (PRKA) anchor protein 13
HGNC id	371

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	368.74 kb     37 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006738 37 - 13302 NP_006729 - 2817 - 2014 24993829 NM_007200 37 - 13290 NP_009131 308 2813 - 2014 24993829 NM_144767 24 - 8081 NP_658913 - 1058 - 2014 24993829 NM_001270546 29 - 9146 NP_001257475 - 1434 - 2014 24993829

EXPRESSION

Type	ubiquitous

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 Lymphoid/Immune lymph node       highly Nervous nerve       highly Reproductive female system breast mammary gland   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a consensus EF hand Ca2+ binding domain at the N terminus
	a region of homology to the transforming oncongen DBL (DH), isolated dbl homology (DH) domain that can function as an independent activator with an enhanced activity, but normally does not act as a solitary AKAP13 interface with RHOA-GDP
	a pleckstrin homology (PH) domain is located at the C-terminal end of the protein and is shown here to specifically recognize activated RHOA rather than lipids

secondary structure

an amphipathic helix binding domain

HOMOLOGY

Homologene

FAMILY	A-kinase anchoring protein family
	Dbl family of oncogenes

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	a kinase (regulatory subunit RII) anchor protein tethering the enzyme to its physiological substrate, cAMP dependent PRK
	catalysing Rho GTPases activity as a guanine nucleotide exchange factor
	coupling extracellular signals to the glucocorticoid signaling system
	scaffold protein with guanine exchange factor (GEF) activity, activator of NFKB downstream of TLR2 signaling
	plays a role in TLR2-mediated NFKB activation
	Rho-specific guanine nucleotide exchange factor that contains a modulatory C-terminal region (Park 2002)
	is likely essential for cardiac development
	is a key RHO-guanine nucleotide exchange factor modulating profibrotic responses in cardiac fibroblasts
	uncontrolled activation of AKAP13 (Lbc) and its close homologs, is implicated in a number of human tumors with poor prognosis and resistance to therapy

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

AKAP13-mediated PRKD1 signaling regulates the transcriptional response to cardiac hypertrophy

a component

INTERACTION

DNA

RNA

small molecule

protein	interacted with glucocorticoid receptors, forming a ternary complex with RhoA
	interacting with CTNNAL1 (may modulate Rho pathway signaling by providing a scaffold for the AKAP13 Rho guanine nucleotide exchange factor)(Park 2002)
	MAP1LC3A is a novel regulatory protein interacting with AKAP13
	AKAP13 may serve an ancillary cardioprotective role by favouring the association of PRKACA with HSPB6
	enhances MAPK14-mediated hypertrophic signaling in the heart in response to abrupt increases in the afterload

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to familial breast cancer

Variant & Polymorphism SNP	Lys526Gln polymorphism revealed a significant association with familial breast cancer

Candidate gene
Marker	expression levels of AKAP13 in Hepatocellular carcinoma (HCC) may be potential biomarkers for the diagnosis and prognosis of this cancer
Therapy target

ANIMAL & CELL MODELS

Akap13 haploinsufficient mice have a deficiency in early osteogenesis with a corresponding reduction in osteoblast number, but no impairment of mature osteoblast activity