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. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein... See more...

Aliases for AKAP5 Gene

Aliases for AKAP5 Gene

  • A-Kinase Anchoring Protein 5 2 3 5
  • AKAP79 2 3 4
  • CAMP-Dependent Protein Kinase Regulatory Subunit II High Affinity-Binding Protein 3 4
  • A Kinase (PRKA) Anchor Protein 5 2 3
  • A-Kinase Anchor Protein 79 KDa 3 4
  • A-Kinase Anchor Protein 5 3 4
  • AKAP 79 3 4
  • AKAP75 2 3
  • H21 3 4
  • A-Kinase Anchoring Protein 75/79 3
  • AKAP-5 4
  • AKAP5 5

External Ids for AKAP5 Gene

Previous GeneCards Identifiers for AKAP5 Gene

  • GC14P062262
  • GC14P058727
  • GC14P062923
  • GC14P064003
  • GC14P064932
  • GC14P045104

Summaries for AKAP5 Gene

Entrez Gene Summary for AKAP5 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. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]

GeneCards Summary for AKAP5 Gene

AKAP5 (A-Kinase Anchoring Protein 5) is a Protein Coding gene. Diseases associated with AKAP5 include Crouzon Syndrome With Acanthosis Nigricans and Fleck Retina, Familial Benign. Among its related pathways are Integration of energy metabolism and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include calmodulin binding and adenylate cyclase binding.

UniProtKB/Swiss-Prot Summary for AKAP5 Gene

  • Multivalent scaffold protein that anchors the cAMP-dependent protein kinase/PKA to cytoskeletal and/or organelle-associated proteins, targeting the signal carried by cAMP to specific intracellular effectors (PubMed:1512224). Association with the beta2-adrenergic receptor (beta2-AR) not only regulates beta2-AR signaling pathway, but also the activation by PKA by switching off the beta2-AR signaling cascade. Plays a role in long term synaptic potentiation by regulating protein trafficking from the dendritic recycling endosomes to the plasma membrane and controlling both structural and functional plasticity at excitatory synapses (PubMed:25589740).

Gene Wiki entry for AKAP5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKAP5 Gene

Genomics for AKAP5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AKAP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J064464 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.1 66 2.3 CEBPG CTCF TEAD4 PRDM10 ZNF629 IKZF1 ZNF692 BACH1 LARP7 PRDM1 AKAP5 ZBTB1 ZBTB25 PPP1R36 HSPA2 RF00017-1579
GH14J064467 Promoter 0.4 Ensembl 600.7 +1.7 1702 0.4 HMBOX1 AKAP5 ZBTB1 ZBTB25 PPP1R36 RF00017-1579
GH14J064499 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +39.3 39251 9.9 BRCA1 CEBPG SP1 HNRNPL GATAD2A ZBTB33 PRDM10 TFE3 ZNF692 POLR2A PPP1R36 ZBTB1 ZBTB25 lnc-ZBTB1-1 ENSG00000259116 AKAP5 HSPA2 TEX21P ENSG00000214770
GH14J064386 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 -77.3 -77298 4.4 BRCA1 SP1 CREB1 GATAD2A ZNF629 REST TFE3 SOX13 IKZF1 ZNF692 MTHFD1 HSALNG0101882 TEX21P lnc-ESR2-3 AKAP5 ENSG00000259116
GH14J064509 Enhancer 0.9 ENCODE dbSUPER 11.1 +45.4 45381 1.9 CTCF FOXA1 RAD21 IKZF2 TRIM22 PAX8 ZNF524 SMARCA5 RUNX3 ZNF444 ENSG00000259116 HSPA2 AKAP5 PPP1R36 ZBTB1 ZBTB25 ENSG00000259160
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKAP5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKAP5

Top Transcription factor binding sites by QIAGEN in the AKAP5 gene promoter:
  • AREB6
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v4

Genomic Locations for AKAP5 Gene

Genomic Locations for AKAP5 Gene
chr14:64,465,499-64,474,503
(GRCh38/hg38)
Size:
9,005 bases
Orientation:
Plus strand
chr14:64,932,217-64,941,221
(GRCh37/hg19)
Size:
9,005 bases
Orientation:
Plus strand

Genomic View for AKAP5 Gene

Genes around AKAP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKAP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKAP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKAP5 Gene

Proteins for AKAP5 Gene

  • Protein details for AKAP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24588-AKAP5_HUMAN
    Recommended name:
    A-kinase anchor protein 5
    Protein Accession:
    P24588
    Secondary Accessions:
    • A2RRB8

    Protein attributes for AKAP5 Gene

    Size:
    427 amino acids
    Molecular mass:
    47088 Da
    Quaternary structure:
    • Binding protein for dimer of the RII-beta regulatory subunit of cAMP-dependent protein kinase (PKA) and also for the protein kinase C (PKC) and the phosphatase calcineurin (PP2B). Each enzyme is inhibited when bound to the anchoring protein. Also binds the beta2-adrenergic receptor. Part of a complex containing AKAP5, ADCY5, ADCY6 AND PDE4C (By similarity). Interacts with ADCY8, and enhances its phosphorylation at lipid rafts.

    Three dimensional structures from OCA and Proteopedia for AKAP5 Gene

neXtProt entry for AKAP5 Gene

Post-translational modifications for AKAP5 Gene

  • Palmitoylated (PubMed:21771783, PubMed:25589740). Palmitoylation at Cys-36 and Cys-129 play a key role in the targeting of AKAP5 to lipid rafts (PubMed:21771783). Palmitoylation by ZDHHC2 is required for AKAP5 function in LTP-stimulated recycling endosome exocytosis (PubMed:25589740).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKAP5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AKAP5 Gene

Domains & Families for AKAP5 Gene

Gene Families for AKAP5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for AKAP5 Gene

InterPro:
Blocks:
  • Protein kinase A anchoring domain
ProtoNet:

Suggested Antigen Peptide Sequences for AKAP5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ96377, Homo sapiens A kinase (PRKA) anchor protein 5 (AKAP5), mRNA (A2RRB8_HUMAN)
  • cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein (AKAP5_HUMAN)
  • AKAP5 protein (Q6PG46_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P24588

UniProtKB/Swiss-Prot:

AKAP5_HUMAN :
  • RII-alpha 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-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
  • The N-terminal region, which is highly basic, is required for interaction with calmodulin.
genes like me logo Genes that share domains with AKAP5: view

Function for AKAP5 Gene

Molecular function for AKAP5 Gene

UniProtKB/Swiss-Prot Function:
Multivalent scaffold protein that anchors the cAMP-dependent protein kinase/PKA to cytoskeletal and/or organelle-associated proteins, targeting the signal carried by cAMP to specific intracellular effectors (PubMed:1512224). Association with the beta2-adrenergic receptor (beta2-AR) not only regulates beta2-AR signaling pathway, but also the activation by PKA by switching off the beta2-AR signaling cascade. Plays a role in long term synaptic potentiation by regulating protein trafficking from the dendritic recycling endosomes to the plasma membrane and controlling both structural and functional plasticity at excitatory synapses (PubMed:25589740).
GENATLAS Biochemistry:
A kinase (PRKA regulatory subunits RIA,RIIA,PKC) anchor protein 5

Phenotypes From GWAS Catalog for AKAP5 Gene

Gene Ontology (GO) - Molecular Function for AKAP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11287423
GO:0005516 calmodulin binding IEA --
GO:0008179 adenylate cyclase binding IBA,IPI 17081159
GO:0017124 SH3 domain binding IPI 10939335
GO:0030346 protein phosphatase 2B binding IDA 10939335
genes like me logo Genes that share ontologies with AKAP5: view
genes like me logo Genes that share phenotypes with AKAP5: view

Animal Models for AKAP5 Gene

MGI Knock Outs for AKAP5:

Animal Model Products

CRISPR Products

miRNA for AKAP5 Gene

miRTarBase miRNAs that target AKAP5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKAP5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKAP5 Gene

Localization for AKAP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKAP5 Gene

Postsynaptic recycling endosome membrane. Lipid-anchor. Note=Associates with lipid rafts. {ECO:0000269 PubMed:21771783}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AKAP5 gene
Compartment Confidence
plasma membrane 5
endosome 5
cytosol 5
nucleus 4
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AKAP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane NAS,TAS --
GO:0009898 cytoplasmic side of plasma membrane IDA 22343722
GO:0014069 postsynaptic density IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AKAP5: view

Pathways & Interactions for AKAP5 Gene

genes like me logo Genes that share pathways with AKAP5: view

Pathways by source for AKAP5 Gene

6 Qiagen pathways for AKAP5 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • cAMP Pathway
  • NFAT and Cardiac Hypertrophy
  • NFAT in Immune Response
1 Cell Signaling Technology pathway for AKAP5 Gene

SIGNOR curated interactions for AKAP5 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for AKAP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IEA --
GO:0007165 signal transduction NAS 1512224
GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IMP 17081159
GO:0007194 negative regulation of adenylate cyclase activity IMP 20410303
GO:0007268 chemical synaptic transmission TAS 1512224
genes like me logo Genes that share ontologies with AKAP5: view

Drugs & Compounds for AKAP5 Gene

(9) Drugs for AKAP5 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0

(2) Additional Compounds for AKAP5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AKAP5: view

Transcripts for AKAP5 Gene

mRNA/cDNA for AKAP5 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKAP5

Alternative Splicing Database (ASD) splice patterns (SP) for AKAP5 Gene

No ASD Table

Relevant External Links for AKAP5 Gene

GeneLoc Exon Structure for
AKAP5

Expression for AKAP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AKAP5 Gene

mRNA differential expression in normal tissues according to GTEx for AKAP5 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x8.2).

Protein differential expression in normal tissues from HIPED for AKAP5 Gene

This gene is overexpressed in Frontal cortex (38.9) and Brain (29.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKAP5 Gene



Protein tissue co-expression partners for AKAP5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKAP5

SOURCE GeneReport for Unigene cluster for AKAP5 Gene:

Hs.656683

mRNA Expression by UniProt/SwissProt for AKAP5 Gene:

P24588-AKAP5_HUMAN
Tissue specificity: Predominantly in the cerebral cortex and the postsynaptic densities of the forebrain, and to a lesser extent in adrenal medulla, lung and anterior pituitary.

Evidence on tissue expression from TISSUES for AKAP5 Gene

  • Kidney(4.4)
  • Spleen(4.2)
  • Thyroid gland(4.1)
  • Nervous system(3.1)
  • Muscle(2.5)
  • Heart(2.4)
genes like me logo Genes that share expression patterns with AKAP5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AKAP5 Gene

Orthologs for AKAP5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKAP5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AKAP5 30 31
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AKAP5 30 31
  • 86.23 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AKAP5 30 31
  • 85.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Akap5 30
  • 74.1 (n)
Mouse
(Mus musculus)
Mammalia Akap5 30 17 31
  • 74.1 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AKAP5 31
  • 52 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AKAP5 31
  • 45 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AKAP5 31
  • 32 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AKAP5 31
  • 29 (a)
OneToOne
Species where no ortholog for AKAP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for AKAP5 Gene

ENSEMBL:
Gene Tree for AKAP5 (if available)
TreeFam:
Gene Tree for AKAP5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKAP5: view image

Paralogs for AKAP5 Gene

No data available for Paralogs for AKAP5 Gene

Variants for AKAP5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKAP5 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
779687 Benign: not provided 64,468,957(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
783690 Benign: not provided 64,469,568(+) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
785460 Benign: not provided 64,469,334(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
rs1256149 - p.Thr203Ile
rs2230491 - p.Pro100Leu

Additional dbSNP identifiers (rs#s) for AKAP5 Gene

Structural Variations from Database of Genomic Variants (DGV) for AKAP5 Gene

Variant ID Type Subtype PubMed ID
esv2748779 CNV deletion 23290073
nsv952852 CNV duplication 24416366

Variation tolerance for AKAP5 Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.65; 45.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKAP5 Gene

Human Gene Mutation Database (HGMD)
AKAP5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKAP5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKAP5 Gene

Disorders for AKAP5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AKAP5 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search AKAP5 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with AKAP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AKAP5 Gene

Publications for AKAP5 Gene

  1. Localization of the cAMP-dependent protein kinase to the postsynaptic densities by A-kinase anchoring proteins. Characterization of AKAP 79. (PMID: 1512224) Carr DW … Scott JD (The Journal of biological chemistry 1992) 2 3 4 23
  2. The palmitoyl acyltransferase DHHC2 regulates recycling endosome exocytosis and synaptic potentiation through palmitoylation of AKAP79/150. (PMID: 25589740) Woolfrey KM … Dell'Acqua ML (The Journal of neuroscience : the official journal of the Society for Neuroscience 2015) 3 4
  3. Palmitoylation targets AKAP79 protein to lipid rafts and promotes its regulation of calcium-sensitive adenylyl cyclase type 8. (PMID: 21771783) Delint-Ramirez I … Cooper DM (The Journal of biological chemistry 2011) 3 4
  4. G-protein-coupled receptor-associated A-kinase anchoring proteins AKAP5 and AKAP12: differential trafficking and distribution. (PMID: 18950703) Chen MH … Malbon CC (Cellular signalling 2009) 3 23
  5. AKAP79 selectively enhances protein kinase C regulation of GluR1 at a Ca2+-calmodulin-dependent protein kinase II/protein kinase C site. (PMID: 18305116) Tavalin SJ (The Journal of biological chemistry 2008) 3 23

Products for AKAP5 Gene

Sources for AKAP5 Gene