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Aliases for AKAP9 Gene

Aliases for AKAP9 Gene

  • A-Kinase Anchoring Protein 9 2 3 5
  • Centrosome- And Golgi-Localized Protein Kinase N-Associated Protein 2 3
  • Centrosome- And Golgi-Localized PKN-Associated Protein 3 4
  • Protein Kinase A Anchoring Protein 9 2 3
  • A Kinase (PRKA) Anchor Protein 9 2 3
  • A-Kinase Anchor Protein 350 KDa 3 4
  • A-Kinase Anchor Protein 450 KDa 3 4
  • AKAP9-BRAF Fusion Protein 2 3
  • AKAP 120-Like Protein 3 4
  • Protein Hyperion 3 4
  • Protein Yotiao 3 4
  • AKAP350 3 4
  • AKAP450 3 4
  • AKAP-9 3 4
  • CG-NAP 3 4
  • PRKA9 3 4
  • Protein Phosphatase 1, Regulatory Subunit 45 3
  • A Kinase (PRKA) Anchor Protein (Yotiao) 9 3
  • Protein Kinase A-Anchoring Protein 9 4
  • A-Kinase Anchoring Protein 450 2
  • Kinase N-Associated Protein 3
  • A-Kinase Anchor Protein 2
  • Protein Phosphatase 1 2
  • Regulatory Subunit 45 2
  • AKAP120-Like Protein 2
  • MU-RMS-40.16A 3
  • HgAKAP 350 4
  • HYPERION 3
  • AKAP 350 4
  • AKAP 450 4
  • KIAA0803 4
  • PPP1R45 3
  • 350kDa 2
  • Yotiao 2
  • YOTIAO 3
  • LQT11 3

External Ids for AKAP9 Gene

Previous GeneCards Identifiers for AKAP9 Gene

  • GC07P090105
  • GC07P091168
  • GC07P091182
  • GC07P091214
  • GC07P091408
  • GC07P091570
  • GC07P086177

Summaries for AKAP9 Gene

Entrez Gene Summary for AKAP9 Gene

  • 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]

GeneCards Summary for AKAP9 Gene

AKAP9 (A-Kinase Anchoring Protein 9) is a Protein Coding gene. Diseases associated with AKAP9 include Long Qt Syndrome-11 and Skull Base Neoplasm. Among its related pathways are Interleukin-3, 5 and GM-CSF signaling and Activation of cAMP-Dependent PKA. GO annotations related to this gene include receptor binding and ion channel binding. An important paralog of this gene is PCNT.

UniProtKB/Swiss-Prot for AKAP9 Gene

  • Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Recruited to the Golgi apparatus by GM130/GOLGA2 and is required for microtubule nucleation at the cis-side of the Golgi apparatusGM130/GOLGA2.

  • Isoform 4: 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.

Gene Wiki entry for AKAP9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKAP9 Gene

Genomics for AKAP9 Gene

Regulatory Elements for AKAP9 Gene

Enhancers for AKAP9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AKAP9 on UCSC Golden Path with GeneCards custom track

Promoters for AKAP9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AKAP9 on UCSC Golden Path with GeneCards custom track

Genomic Location for AKAP9 Gene

Chromosome:
7
Start:
91,940,867 bp from pter
End:
92,110,673 bp from pter
Size:
169,807 bases
Orientation:
Plus strand

Genomic View for AKAP9 Gene

Genes around AKAP9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKAP9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKAP9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKAP9 Gene

Proteins for AKAP9 Gene

  • Protein details for AKAP9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99996-AKAP9_HUMAN
    Recommended name:
    A-kinase anchor protein 9
    Protein Accession:
    Q99996
    Secondary Accessions:
    • A4D1F0
    • A4D1F2
    • A4D1F4
    • O14869
    • O43355
    • O94895
    • Q75N20
    • Q9UQH3
    • Q9UQQ4
    • Q9Y6B8
    • Q9Y6Y2

    Protein attributes for AKAP9 Gene

    Size:
    3911 amino acids
    Molecular mass:
    453667 Da
    Quaternary structure:
    • 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 (PubMed:15047863). Interacts with chloride intracellular channel proteins CLIC1, CLIC4 and CLIC5 (PubMed:12163479). CSNK1D binding promotes its centrosomal subcellular location (PubMed:12270714). Interacts with GM130/GOLGA2; leading to recruitment to the Golgi apparatus (PubMed:19242490). Interacts with KCNQ1; targets protein kinase A (PKA) catalytic and regulatory subunits and protein phosphatase 1 (PP1), to the heterodimer KCNQ1-KCNE1 (PubMed:11799244).
    SequenceCaution:
    • Sequence=AAB86384.1; Type=Frameshift; Positions=1637; Evidence={ECO:0000305}; Sequence=AAC60380.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for AKAP9 Gene

neXtProt entry for AKAP9 Gene

Proteomics data for AKAP9 Gene at MOPED

Post-translational modifications for AKAP9 Gene

  • Ubiquitination at Lys 1446
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for AKAP9

No data available for DME Specific Peptides for AKAP9 Gene

Domains & Families for AKAP9 Gene

Protein Domains for AKAP9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AKAP9 Gene

Graphical View of Domain Structure for InterPro Entry

Q99996

UniProtKB/Swiss-Prot:

AKAP9_HUMAN :
  • RII-binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
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.
genes like me logo Genes that share domains with AKAP9: view

Function for AKAP9 Gene

Molecular function for AKAP9 Gene

GENATLAS Biochemistry:
a kinase (PRKA regulatory subunit RIIA) anchor protein 9,abundantly expressed in skeletal muscle and pancreas,also expressed in brain,located in the centrosome,interacting with a splice variant of GRIN1
UniProtKB/Swiss-Prot Function:
Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Recruited to the Golgi apparatus by GM130/GOLGA2 and is required for microtubule nucleation at the cis-side of the Golgi apparatusGM130/GOLGA2.
UniProtKB/Swiss-Prot Function:
Isoform 4: 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.

Gene Ontology (GO) - Molecular Function for AKAP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032947 protein complex scaffold IEA,IDA 11799244
genes like me logo Genes that share ontologies with AKAP9: view
genes like me logo Genes that share phenotypes with AKAP9: view

Human Phenotype Ontology for AKAP9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for AKAP9 Gene

miRTarBase miRNAs that target AKAP9

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for AKAP9 Gene

Localization for AKAP9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKAP9 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Golgi apparatus. Note=Cytoplasmic in parietal cells. {ECO:0000269 PubMed:9915845}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AKAP9 Gene COMPARTMENTS Subcellular localization image for AKAP9 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 5
plasma membrane 4
nucleus 3

Gene Ontology (GO) - Cellular Components for AKAP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005795 Golgi stack IDA 19242490
GO:0008076 voltage-gated potassium channel complex IDA 11799244
genes like me logo Genes that share ontologies with AKAP9: view

Pathways & Interactions for AKAP9 Gene

SuperPathways for AKAP9 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Regulation of PLK1 Activity at G2/M Transition
3 Post NMDA receptor activation events
4 Activation of cAMP-Dependent PKA
5 Cardiac conduction
genes like me logo Genes that share pathways with AKAP9: view

Gene Ontology (GO) - Biological Process for AKAP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0006810 transport TAS 10390370
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with AKAP9: view

No data available for SIGNOR curated interactions for AKAP9 Gene

Drugs & Compounds for AKAP9 Gene

(5) Drugs for AKAP9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for AKAP9 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Methyl-D-aspartic acid
  • N-Me-D-Asp-OH
  • N-Methyl D-aspartate
  • N-Methyl D-aspartic acid
  • N-Methyl-D-aspartate
  • NMDA
6384-92-5
genes like me logo Genes that share compounds with AKAP9: view

Transcripts for AKAP9 Gene

Unigene Clusters for AKAP9 Gene

A kinase (PRKA) anchor protein (yotiao) 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AKAP9 Gene

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: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

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:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45 ^ 46 ^ 47a · 47b · 47c ^ 48a · 48b · 48c ^ 49a · 49b
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13: -

Relevant External Links for AKAP9 Gene

GeneLoc Exon Structure for
AKAP9
ECgene alternative splicing isoforms for
AKAP9

Expression for AKAP9 Gene

mRNA expression in normal human tissues for AKAP9 Gene

Protein differential expression in normal tissues from HIPED for AKAP9 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.1) and Placenta (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AKAP9 Gene



SOURCE GeneReport for Unigene cluster for AKAP9 Gene Hs.651221

mRNA Expression by UniProt/SwissProt for AKAP9 Gene

Q99996-AKAP9_HUMAN
Tissue specificity: Widely expressed (PubMed:10202149). Isoform 4: Highly expressed in skeletal muscle and in pancreas (PubMed:9482789).
genes like me logo Genes that share expression patterns with AKAP9: view

Protein tissue co-expression partners for AKAP9 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AKAP9 Gene

Orthologs for AKAP9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKAP9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AKAP9 35
  • 88.4 (n)
  • 86.1 (a)
AKAP9 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AKAP9 35
  • 90.23 (n)
  • 87.67 (a)
AKAP9 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AKAP9 35
  • 99.56 (n)
  • 99.39 (a)
AKAP9 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AKAP9 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Akap9 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKAP9 36
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKAP9 35
  • 67.33 (n)
  • 60.32 (a)
AKAP9 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKAP9 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akap9 35
  • 58.71 (n)
  • 47.81 (a)
Str.14256 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7010 35
zebrafish
(Danio rerio)
Actinopterygii Dr.9964 35
akap9 36
  • 30 (a)
OneToMany
CABZ01010098.1 36
  • 47 (a)
OneToMany
CABZ01010103.1 36
  • 41 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6103 35
Species with no ortholog for AKAP9:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AKAP9 Gene

ENSEMBL:
Gene Tree for AKAP9 (if available)
TreeFam:
Gene Tree for AKAP9 (if available)

Paralogs for AKAP9 Gene

Paralogs for AKAP9 Gene

(1) SIMAP similar genes for AKAP9 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for AKAP9 Gene

genes like me logo Genes that share paralogs with AKAP9: view

Variants for AKAP9 Gene

Sequence variations from dbSNP and Humsavar for AKAP9 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs6964587 - 92,001,306(+) GAAAT(G/T)AAAAC reference, missense
rs6960867 - 92,083,384(+) CAGCA(A/G)TCAGA reference, missense
rs1063242 - 92,085,597(+) CAGAA(C/T)CTTGG reference, missense
VAR_035785 A colorectal cancer sample
VAR_035786 A breast cancer sample

Structural Variations from Database of Genomic Variants (DGV) for AKAP9 Gene

Variant ID Type Subtype PubMed ID
nsv5838 CNV Loss 18451855
nsv888733 CNV Gain 21882294
nsv888734 CNV Loss 21882294

Variation tolerance for AKAP9 Gene

Residual Variation Intolerance Score: 64.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.20; 97.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AKAP9 Gene

Human Gene Mutation Database (HGMD)
AKAP9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKAP9 Gene

Disorders for AKAP9 Gene

MalaCards: The human disease database

(6) MalaCards diseases for AKAP9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome-11
  • long qt syndrome 11
skull base neoplasm
  • tumors of skull base
long qt syndrome
  • long q-t syndrome
skull base meningioma
  • meningioma of the skull base
long qt syndrome 1
  • long qt syndrome 1, acquired
- elite association - COSMIC cancer census association via MalaCards
Search AKAP9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AKAP9_HUMAN
  • Long QT syndrome 11 (LQT11) [MIM:611820]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:18093912}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AKAP9

Genetic Association Database (GAD)
AKAP9
Human Genome Epidemiology (HuGE) Navigator
AKAP9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AKAP9
genes like me logo Genes that share disorders with AKAP9: view

No data available for Genatlas for AKAP9 Gene

Publications for AKAP9 Gene

  1. Yotiao, a novel protein of neuromuscular junction and brain that interacts with specific splice variants of NMDA receptor subunit NR1. (PMID: 9482789) Lin J.W. … Sheng M. (J. Neurosci. 1998) 2 3 4 67
  2. Centrosomal AKAP350 modulates the G1/S transition. (PMID: 24475373) Mattaloni S.M. … Larocca M.C. (Cell Logist 2013) 2 3
  3. Integrin and CD3/TCR activation are regulated by the scaffold protein AKAP450. (PMID: 20231423) Robles-Valero J. … SA!nchez-Madrid F. (Blood 2010) 3 23
  4. GISP binding to TSG101 increases GABA receptor stability by down-regulating ESCRT-mediated lysosomal degradation. (PMID: 18643869) Kantamneni S. … Henley J.M. (J. Neurochem. 2008) 3 23
  5. Recruitment of CG-NAP to the Golgi apparatus through interaction with dynein-dynactin complex. (PMID: 17352745) Kim H.S. … Ono Y. (Genes Cells 2007) 3 23

Products for AKAP9 Gene

Sources for AKAP9 Gene

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