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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:91,940,867-92,110,673)mRNA (may differ from genome)Protein (3907 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGIneXtProtOMIMPubMedReactome
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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";

-  MalaCards Disease Associations
  MalaCards Gene Search: AKAP9
Diseases sorted by gene-association score: long qt syndrome-11* (1379), long qt syndrome 1* (129), long qt syndrome (12), skull base meningioma (9), skull base neoplasm (9), brugada syndrome* (7), cardiomyopathy, dilated, 1p (6), long qt syndrome 5 (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • D003300 Copper
  • C025205 1,10-phenanthroline
  • C023514 2,6-dinitrotoluene
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C002166 4-methyl-7-diethylaminocoumarin
  • D015124 8-Bromo Cyclic Adenosine Monophosphate
  • D000086 Acetazolamide
  • D016604 Aflatoxin B1
  • D000393 Air Pollutants
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.11 RPKM in Pituitary
Total median expression: 283.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -86.20233-0.370 Picture PostScript Text
3' UTR -111.90514-0.218 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019528 - PACT_domain

Pfam Domains:
PF10495 - Pericentrin-AKAP-450 domain of centrosomal targeting protein

ModBase Predicted Comparative 3D Structure on Q99996
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005088 Ras guanyl-nucleotide exchange factor activity
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0015459 potassium channel regulator activity
GO:0032947 protein complex scaffold
GO:0034237 protein kinase A regulatory subunit binding
GO:0044325 ion channel binding

Biological Process:
GO:0000086 G2/M transition of mitotic cell cycle
GO:0000165 MAPK cascade
GO:0007020 microtubule nucleation
GO:0007165 signal transduction
GO:0007194 negative regulation of adenylate cyclase activity
GO:0007268 chemical synaptic transmission
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0031116 positive regulation of microtubule polymerization
GO:0033138 positive regulation of peptidyl-serine phosphorylation
GO:0051602 response to electrical stimulus
GO:0051661 maintenance of centrosome location
GO:0060306 regulation of membrane repolarization
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0071320 cellular response to cAMP
GO:0086091 regulation of heart rate by cardiac conduction
GO:0097711 ciliary basal body docking
GO:0098909 regulation of cardiac muscle cell action potential involved in regulation of contraction
GO:1901018 positive regulation of potassium ion transmembrane transporter activity
GO:1903358 regulation of Golgi organization

Cellular Component:
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005795 Golgi stack
GO:0005801 cis-Golgi network
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0008076 voltage-gated potassium channel complex
GO:0043025 neuronal cell body
GO:0043231 intracellular membrane-bounded organelle
GO:0044307 dendritic branch
GO:0097060 synaptic membrane


-  Descriptions from all associated GenBank mRNAs
  KJ902063 - Synthetic construct Homo sapiens clone ccsbBroadEn_11457 AKAP9 gene, encodes complete protein.
AJ131693 - Homo sapiens mRNA for AKAP450 protein.
AF026245 - Homo sapiens yotiao mRNA, complete cds.
AB019691 - Homo sapiens mRNA for Centrosome- and Golgi-localized PKN-associated protein (CG-NAP), complete cds.
BC172915 - Synthetic construct Homo sapiens clone IMAGE:9094491 A-kinase anchor protein 9 isoform 3 (AKAP9) gene, partial cds.
AF247727 - Homo sapiens AKAP350C mRNA, complete cds, alternatively spliced.
AF083037 - Homo sapiens A-kinase anchoring protein AKAP350 mRNA, partial cds.
JD200882 - Sequence 181906 from Patent EP1572962.
BC015533 - Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9, mRNA (cDNA clone IMAGE:3914749), complete cds.
JD407779 - Sequence 388803 from Patent EP1572962.
AY803272 - Homo sapiens AKAP9-BRAF fusion protein mRNA, complete cds.
JD095143 - Sequence 76167 from Patent EP1572962.
JD501388 - Sequence 482412 from Patent EP1572962.
CU677341 - Synthetic construct Homo sapiens gateway clone IMAGE:100022663 5' read AKAP9 mRNA.
AY528715 - Homo sapiens antigen MU-RMS-40.16A mRNA, partial cds.
BC062448 - Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9, mRNA (cDNA clone IMAGE:4249102).
AL117418 - Homo sapiens mRNA; cDNA DKFZp564G2263 (from clone DKFZp564G2263).
BC172916 - Synthetic construct Homo sapiens clone IMAGE:9094492 A-kinase anchor protein 9 isoform 3 (AKAP9) gene, partial cds.
AF091711 - Homo sapiens splice variant AKAP350 mRNA, partial cds.
AB018346 - Homo sapiens mRNA for KIAA0803 protein, partial cds.
AK074869 - Homo sapiens cDNA FLJ90388 fis, clone NT2RP2005425, highly similar to A-kinase anchor protein 9.
AK000270 - Homo sapiens cDNA FLJ20263 fis, clone COLF7804, highly similar to AJ131693 Homo sapiens mRNA for AKAP450 protein.
AK057546 - Homo sapiens cDNA FLJ32984 fis, clone THYMU1000017, highly similar to Homo sapiens splice variant AKAP350 mRNA.
AK026444 - Homo sapiens cDNA: FLJ22791 fis, clone KAIA2181, highly similar to HSA131693 Homo sapiens mRNA for AKAP450 protein.
BC027455 - Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9, mRNA (cDNA clone IMAGE:4510491), with apparent retained intron.
AK025160 - Homo sapiens cDNA: FLJ21507 fis, clone COL05722, highly similar to AF091711 Homo sapiens splice variant AKAP350 mRNA.
BC040932 - Homo sapiens, clone IMAGE:4540494, mRNA, partial cds.
JD315551 - Sequence 296575 from Patent EP1572962.
JD297278 - Sequence 278302 from Patent EP1572962.
JD184509 - Sequence 165533 from Patent EP1572962.
JD548831 - Sequence 529855 from Patent EP1572962.
JD086197 - Sequence 67221 from Patent EP1572962.
JD304283 - Sequence 285307 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_akapCentrosomePathway - Protein Kinase A at the Centrosome

Reactome (by CSHL, EBI, and GO)

Protein Q99996 (Reactome details) participates in the following event(s):

R-HSA-380272 Plk1-mediated phosphorylation of Nlp
R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
R-HSA-380294 Loss of C-Nap-1 from centrosomes
R-HSA-380311 Recruitment of Plk1 to centrosomes
R-HSA-380455 Recruitment of CDK11p58 to the centrosomes
R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome
R-HSA-5626220 C2CD3 binds the mother centriole
R-HSA-380508 Translocation of NuMA to the centrosomes
R-HSA-2574845 AJUBA binds centrosome-associated AURKA
R-HSA-8853405 TPX2 binds AURKA at centrosomes
R-HSA-3000319 BORA binds PLK1 and AURKA
R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation
R-HSA-3000310 AURKA phosphorylates PLK1
R-HSA-432172 Activation of NMDA receptor
R-HSA-432162 Unblocking of NMDA receptor
R-HSA-5577050 AKAP9:KCNQ1 tetramer:KCNE dimer transports K+ from cytosol to extracellular region
R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-6802927 BRAF and RAF fusion mutant dimers are phosphorylated
R-HSA-6802934 p-BRAF and RAF fusion dimers bind MAP2Ks and MAPKs
R-HSA-6802932 Dissociation of BRAF/RAF fusion complex
R-HSA-380316 Association of NuMA with microtubules
R-HSA-8853419 TPX2 promotes AURKA autophosphorylation
R-HSA-442760 Activation of RasGRF
R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-6802933 p-BRAF and RAF fusion dimers phosphorylate MAP2Ks
R-HSA-6802935 MAPKs are phosphorylated downstream of BRAF and RAF fusion dimers
R-HSA-432164 Ca2+ influx into the post-synaptic cell
R-HSA-445367 CaMKII enters cytoplasm
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-442732 Ras activation
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854518 AURKA Activation by TPX2
R-HSA-380287 Centrosome maturation
R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation
R-HSA-5576890 Phase 3 - rapid repolarisation
R-HSA-5576893 Phase 2 - plateau phase
R-HSA-5617833 Cilium Assembly
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-68877 Mitotic Prometaphase
R-HSA-69275 G2/M Transition
R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-442755 Activation of NMDA receptor and postsynaptic events
R-HSA-5576891 Cardiac conduction
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-6802957 Oncogenic MAPK signaling
R-HSA-68886 M Phase
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-442742 CREB phosphorylation through the activation of Ras
R-HSA-442729 CREB phosphorylation through the activation of CaMKII
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-397014 Muscle contraction
R-HSA-5663202 Diseases of signal transduction
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-438064 Post NMDA receptor activation events
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-1643685 Disease
R-HSA-1640170 Cell Cycle
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-112316 Neuronal System
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-5683057 MAPK family signaling cascades
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A4D1F0, A4D1F2, A4D1F4, AKAP350, AKAP450, AKAP9_HUMAN, KIAA0803, NM_147185, O14869, O43355, O94895, Q75N20, Q99996, Q9UQH3, Q9UQQ4, Q9Y6B8, Q9Y6Y2, uc003ulg.1, uc003ulg.2, uc003ulg.3, uc003ulg.4
UCSC ID: uc003ulg.4
RefSeq Accession: NM_005751
Protein: Q99996 (aka AKAP9_HUMAN or AKA9_HUMAN)
CCDS: CCDS5622.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene AKAP9:
rws (Long QT Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.