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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
Location 15q25.3      Physical location : 85.923.870 - 86.292.586
Synonym name
  • lymphoid blast crisis oncogene
  • breast cancer nuclear receptor-binding auxiliary protein
  • LBC oncogene
  • PROTO-LB LBC
  • guanine nucleotide exchange factor Lbc
  • human thyroid-anchoring protein 31
  • non-oncogenic Rho GTPase-specific GTP exchange factor
    • Synonym symbol(s) Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, LBC, FLJ11952, FLJ43341, P47, ARHGEF13, PROTO-LBC, KAP-13, Ht31, PRKA13, PROTO-LB, BRX-1
    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
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 - 13302 - 2817 - 2014 24993829
    37 - 13290 308 2813 - 2014 24993829
    24 - 8081 - 1058 - 2014 24993829
    29 - 9146 - 1434 - 2014 24993829
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Nervousnerve   highly
    Reproductivefemale systembreastmammary 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