Human Gene AKAP9 (ENST00000356239.7) Description and Page Index
Description: Homo sapiens A-kinase anchoring protein 9 (AKAP9), transcript variant 3, mRNA. (from RefSeq NM_147185) RefSeq Summary (NM_005751): The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]. Gencode Transcript: ENST00000356239.7 Gencode Gene: ENSG00000127914.16 Transcript (Including UTRs) Position: hg38 chr7:91,940,867-92,110,673 Size: 169,807 Total Exon Count: 50 Strand: + Coding Region Position: hg38 chr7:91,941,100-92,110,159 Size: 169,060 Coding Exon Count: 50
ID:AKAP9_HUMAN DESCRIPTION: RecName: Full=A-kinase anchor protein 9; Short=AKAP-9; AltName: Full=A-kinase anchor protein 350 kDa; Short=AKAP 350; Short=hgAKAP 350; AltName: Full=A-kinase anchor protein 450 kDa; Short=AKAP 450; AltName: Full=AKAP 120-like protein; AltName: Full=Centrosome- and Golgi-localized PKN-associated protein; Short=CG-NAP; AltName: Full=Protein hyperion; AltName: Full=Protein kinase A-anchoring protein 9; Short=PRKA9; AltName: Full=Protein yotiao; FUNCTION: Binds to type II regulatory subunits of protein kinase A. Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. May be required to maintain the integrity of the Golgi apparatus. Isoform 4 is associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations. SUBUNIT: Interacts with the regulatory region of protein kinase N (PKN), protein phosphatase 2A (PP2A), protein phosphatase 1 (PP1) and the immature non-phosphorylated form of PKC epsilon. Interacts with CIP4 and FNBP1. Interacts with chloride intracellular channel proteins CLIC1, CLIC4 and CLIC5. CSNK1D binding promotes its centrosomal subcellular location. SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, centrosome. Golgi apparatus. Note=Cytoplasmic in parietal cells. TISSUE SPECIFICITY: Widely expressed. Isoform 4 is highly expressed in skeletal muscle and in pancreas. DOMAIN: RII-binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in AKAP9 are the cause of long QT syndrome type 11 (LQT11) [MIM:611820]. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress. They can present with a sentinel event of sudden cardiac death in infancy. SEQUENCE CAUTION: Sequence=AAB86384.1; Type=Frameshift; Positions=1637; Sequence=AAC60380.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/AKAP9ID42999ch7q21.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF10495 - Pericentrin-AKAP-450 domain of centrosomal targeting protein
ModBase Predicted Comparative 3D Structure on Q99996
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.