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Aliases & Descriptions for AKAP9
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases AKAP350 1 , 2 , 3 AKAP450 1 , 2 , 3 , 5 CG-NAP 1 , 2 , 3 HYPERION 1 , 2 KIAA0803 1 , 2 , 3 MU-RMS-40.16A 1 , 2 PRKA9 1 , 2 , 3 YOTIAO 1 , 2 , 5
Descriptions A kinase (PRKA) anchor protein (yotiao) 9 2 A-kinase anchor protein 350 kDa 3 A-kinase anchor protein 450 kDa 3 A-kinase anchor protein 9 2 A-kinase anchor protein, 350kDa 2 A-kinase anchoring protein 450 2 AKAP 120-like protein 3 AKAP 350 3 AKAP 450 3 AKAP120-like protein 2 AKAP9-BRAF fusion protein 2 Centrosome- and Golgi-localized PKN-associated protein 3 Protein hyperion 3 Protein kinase A-anchoring protein 9 3 Protein yotiao 3 centrosome- and golgi-localized protein 2 hgAKAP 350 3 kinase N-associated protein 2 protein kinase A anchoring protein 9 2
Search outside databases for aliases for AKAP9 genePrevious GC identifers: GC07P090105 GC07P091168 GC07P091182 GC07P091214
Summaries for AKAP9 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for AKAP9 : The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have thecommon function of binding to the regulatory subunit of protein kinase A (PKA) and confining theholoenzyme 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 centrosomeand the Golgi apparatus, and interact with numerous signaling proteins from multiple signaltransduction pathways. These signaling proteins include type II protein kinase A, serine/threoninekinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilonand phosphodiesterase 4D3. [provided by RefSeq] UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996 Function : Binds to type II regulatory subunits of protein kinase A. Scaffolding protein thatassembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. May berequired to maintain the integrity of the Golgi apparatus. Isoform 4/Yotiao is associated with theN-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) aswell as in neuronal synapses, suggesting a role in the organization of postsynapticspecializations
Gene Wiki entry for AKAP9
Genomic Location for AKAP9
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the AKAP9 gene Entrez Gene cytogenetic band: 7q21-q22 Ensembl cytogenetic band: 7q21.2 HGNC cytogenetic band: 7q21-q22 AKAP9 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure
GeneLoc location for GC07P091408:
(about GC identifiers )
Start:
91,408,128 bp from pter
End:
91,577,925 bp from pter
Size:
169,798 bases
Orientation:
plus strand
1 alternative location : Chr 7+,CRA_TCAG 90,900,319-91,069,227
RefSeq DNA sequence: NC_000007.12 NT_007933.14 NT_079595.2 Proteins for AKAP9
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996 (See
protein sequence )Recommended Name: A-kinase anchor protein 9 Size : 3911 amino acids; 453667 Da
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
Subcellular location : Cytoplasm. Centrosome. Golgi apparatus. Note=Cytoplasmic in parietal cells
Sequence caution : Sequence=AAB86384.1; Type=Frameshift; Positions=1637; Sequence=AAC60380.1;Type=Erroneous gene model prediction;
Secondary accessions : A4D1F0 A4D1F2 A4D1F4 O14869 O43355 O94895 Q75N20 Q9UQH3 Q9UQQ4 Q9Y6B8 Q9Y6Y2Alternative splicing : 6 isoforms : Q99996-1 Q99996-2 Q99996-3 Q99996-4 Q99996-5 Q99996-6
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (4 alternative transcripts):
NP_005742.4 NP_671695.1 NP_671700.1 NP_671714.1 ENSEMBL proteins: ENSP00000265737 ENSP00000378042 ENSP00000351922 ENSP00000378066 ENSP00000378065 ENSP00000348573 ENSP00000350813 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for AKAP9: Assays for AKAP9:
Protein
Domains/ Families for AKAP9(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q99996 ProtoNet protein and cluster: Q99996
UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996 Domain : RII-binding site, predicted to form an amphipathic helix, could participate inprotein-protein interactions with a complementary surface on the R-subunit dimer
Gene Function for AKAP9
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_005751 Applied Biosystems Silencer ® siRNAs for AKAP9 Sigma-Aldrich siRNA and siRNA Panels for AKAP9 Sigma-Aldrich shRNA for AKAP9 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_005751                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_005751                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_005751  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005751 UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996 Function : Binds to type II regulatory subunits of protein kinase A. Scaffolding protein thatassembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. May berequired to maintain the integrity of the Golgi apparatus. Isoform 4/Yotiao is associated with theN-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) aswell as in neuronal synapses, suggesting a role in the organization of postsynapticspecializations
Genatlas biochemistry entry for AKAP9 :a kinase (PRKA regulatory subunit RIIA) anchor protein 9,abundantly expressed in skeletal muscleand pancreas,also expressed in brain,located in the centrosome,interacting with a splice variantof GRIN1 1 Gene Ontology (GO) molecular function term (links to tree view) :
About this table
Pathways & Interactions for AKAP9
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for AKAP9 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for AKAP9 --3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for AKAP9 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for AKAP9 4 Novoseek chemical compound relationships for AKAP9 gene
About this table 1 PharmGKB drug compound relationship for AKAP9 gene
Drug compound
PharmGKB Relations
PubMed IDs for articles supporting these relationships
antiarrhythmics FA  11799244
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Transcripts for AKAP9(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_005751 Sigma-Aldrich siRNA and siRNA Panels for AKAP9 Sigma-Aldrich shRNA for AKAP9 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_005751 NM_147185
REFSEQ mRNAs for AKAP9 gene (4 alternative transcripts): NM_005751.4 NM_147166.1 NM_147171.1 NM_147185.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005751 NM_147185
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_005751                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_005751                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_005751  
Additional cDNA sequence: AB018346.1 AB019691.1 AF026245.1 AF083037.1 AF091711.1 AF247727.2 AJ131693.1 AK000270.1 AK025160.1 AK026444.1 AK057546.1 AK074869.1 AL117418.1 AY528715.1 BC015533.2 BC027455.1 BC040932.1 BC062448.1
23 DOTS entries : DT.452376 DT.100791885 DT.100656918 DT.100791886 DT.100791884 DT.91666841 DT.95287324 DT.431646 DT.91767641 DT.121112386 DT.40253873 DT.95337133 DT.121112521 DT.95113969 DT.97827477 DT.100027182 DT.213369 DT.100660446 DT.121112494 DT.75141107 DT.75196239 DT.75196327 DT.95287326
24/242 AceView cDNA sequences (see all 242
):AI887666 NM_147166 CA419148 W87644 BE464444 AA429253 AI253205 BE218438 BG290591 BC027455 Z38615 AA768003 CB134771 BX114750 BQ950320 AJ131693 T50165 CD251824 AL713507 BQ184576 AA931269 CA449636 BC040932 BQ186531
highest scoring ESTs for AKAP9 :AB019691 AA001872 AA429253 AA502941 AA677489 AA693583 AA702784 AA908642 AA931269 AA976494
Unigene Cluster for AKAP9: A kinase (PRKA) anchor protein (yotiao) 9 Hs.651221 [show with all ESTs ] Unigene Representative Sequence: AJ131693 GeneLoc Exon Structure 5/13 Alternative Splicing Database (ASD) splice patterns (SP) for AKAP9 (see all 13
) ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ SP1 :             -                         -                 SP2 :             -                         -                 SP3 :                                     -                 SP4 :                                                     SP5 :             -                                        
ExUns: 25a · 25b ^ 26a · 26b · 26c ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37a · 37b · 37c ^ 38a · 38b ^ 39 ^ 40a · 40b · 40c ^ SP1 :       -   -                       -       -   -   -             SP2 :         -                       -       -   -   -             SP3 :         -                       -       -   -   -             SP4 :                               -       -   -   -             SP5 :                                                    
ExUns: 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45 ^ 46 ^ 47a · 47b · 47c ^ 48a · 48b · 48c ^ 49a · 49b SP1 :       -         -     -       -       SP2 :       -         -     -       -       SP3 :       -         -     -       -       SP4 :       -         -     -             SP5 :                              
About this scheme ECgene alternative splicing isoforms for AKAP9 7 Ensembl transcripts including schematic representations : ENST00000265737
ENST00000394534
ENST00000359028
ENST00000394565
ENST00000394564
ENST00000356239
ENST00000358100
Expression for AKAP9
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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AKAP9 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for AKAP9 1 / 2 / 3
8 probe-sets matching AKAP9 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TTTTGCCTAASOURCE GeneReport for Unigene cluster: Hs.651221 Expression variation in blood from EXPOLDB for AKAP9
UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996 Tissue specificity : Widely expressed. Isoform 4/Yotiao is highly expressed in skeletal muscle andin pancreas
Orthologs for AKAP9
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for AKAP9 gene from 5/10 species (see all 10
)
About this table Species with no ortholog for AKAP9 ENSEMBL Gene Tree for AKAP9 Paralogs for AKAP9 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for AKAP9 gene PCNT 2 TPR 2 EEA1 2
SNPs/Variants for AKAP9 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for AKAP9 (up to first 250kb)
Disorders & Mutations for AKAP9
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 604001 disorders : 611820 UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996
Defects in AKAP9 are the cause of long QT syndrome type 11 (LQT11) [MIM:611820]. Long QTsyndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphicventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotionalstress. They can present with a sentinel event of sudden cardiac death in infancy
1 Novoseek disease relationship for AKAP9 gene
About this table 1 PharmGKB disease relationship for AKAP9 gene About this table Human Gene Mutation Database : AKAP9 Human Genome Epidemiology Navigator: AKAP9 (5 documents)
Medical News for AKAP9 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for AKAP9 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/52 PubMed articles for AKAP9 gene (see all 52
): Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. (PubMed id 11799244) 1, 3, 7 Marx S.O....Kass R.S. (2002) Yotiao, a novel protein of neuromuscular junction and brain that interacts with specific splice variants of NMDA receptor subunit NR1. (PubMed id 9482789) 2, 3, 4 Lin J.W.... Sheng M. (1998) AKAP350, a multiply spliced protein kinase A-anchoring protein associated with centrosomes. (PubMed id 9915845) 1, 3, 4 Schmidt P.H.... Goldenring J.R. (1999) Characterization of a novel giant scaffolding protein, CG-NAP, that anchors multiple signaling enzymes to centrosome and the Golgi apparatus. (PubMed id 10358086) 1, 3, 4 Takahashi M.... Ono Y. (1999) Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450. (PubMed id 10202149) 1, 3, 4 Witczak O.... Oerstavik S. (1999) Mutation of an A-kinase-anchoring protein causes long-QT syndrome. (PubMed id 18093912) 1, 3, 4 Chen L....Kass R.S. (2007) AKAP350 interaction with cdc42 interacting protein 4 at the Golgi apparatus. (PubMed id 15047863) 3, 4 Larocca M.C....Goldenring J.R. (2004) Human chromosome 7: DNA sequence and biology. (PubMed id 12690205) 3, 4 Scherer S.W....Tsui L.C. (2003) The DNA sequence of human chromosome 7. (PubMed id 12853948) 3, 4 Hillier L.W.... Wilson R.K. (2003) Regulation of NMDA receptors by an associated phosphatase-kinase signaling complex. (PubMed id 10390370) 2, 3 Westphal R.S....Scott J.D. (1999)
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Genome Databases showing AKAP9
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing AKAP9
(According to HUGE )
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Specialized Databases showing AKAP9 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for AKAP9 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for AKAP9:
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009