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Aliases for AKAP5 Gene

Aliases for AKAP5 Gene

  • A-Kinase Anchoring Protein 5 2 3 5
  • 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
  • AKAP 79 3 4
  • AKAP79 3 4
  • H21 3 4
  • A-Kinase Anchoring Protein 75/79 3
  • A-Kinase Anchor Protein 5 3
  • AKAP75 3
  • AKAP-5 4

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 Corneal Ectasia and Ureterolithiasis. Among its related pathways are NFAT and Cardiac Hypertrophy and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include calmodulin binding and adenylate cyclase binding.

UniProtKB/Swiss-Prot for AKAP5 Gene

  • May anchor the PKA protein to cytoskeletal and/or organelle-associated proteins, targeting the signal carried by cAMP to specific intracellular effectors. Association with to 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.

Gene Wiki entry for AKAP5 Gene

Additional gene information for AKAP5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKAP5 Gene

Genomics for AKAP5 Gene

GeneHancer (GH) Regulatory Elements for AKAP5 Gene

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
GH14I064464 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +0.1 129 2.2 PKNOX1 RB1 ZNF76 ZEB1 ZNF335 GLIS2 EGR1 ZNF143 RUNX3 CEBPB AKAP5 ZBTB1 ZBTB25 PPP1R36 HSPA2
GH14I064499 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 +39.3 39251 9.9 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB1 ZBTB25 LOC102723809 PPP1R36 AKAP5 HSPA2 TEX21P SYNE2 ENSG00000214770
GH14I064386 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.1 -77.0 -76974 3.4 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 MTHFD1 TEX21P LOC102723809 AKAP5 SYNE2 ENSG00000272909
GH14I064509 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.1 +45.4 45381 1.9 ELF3 CTCF PKNOX1 FOXA2 MAX PAX8 ZNF2 RAD21 RFX5 ZFHX2 LOC102723809 HSPA2 AKAP5 PPP1R36 ZBTB1 ZBTB25 GC14P064524
GH14I064390 Enhancer 0.8 Ensembl ENCODE 10.8 -73.6 -73649 1.8 CTCF RXRA TAF1 ZEB2 REST BCL11B YY1 SP1 JUND ZNF184 MTHFD1 AKAP5 ZBTB1 ZBTB25 ENSG00000272909
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AKAP5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AKAP5 gene promoter:

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)

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

  • Palmitoylation at Cys-36 and Cys-129 plays a key role in targeting to lipid rafts.

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

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

GENATLAS Biochemistry:
A kinase (PRKA regulatory subunits RIA,RIIA,PKC) anchor protein 5
UniProtKB/Swiss-Prot Function:
May anchor the PKA protein to cytoskeletal and/or organelle-associated proteins, targeting the signal carried by cAMP to specific intracellular effectors. Association with to 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.

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 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:

Clone Products

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

Membrane; Lipid-anchor. Note=Associates with lipid rafts.

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
cytosol 5
nucleus 4
cytoskeleton 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 TAS,NAS --
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

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:0007268 chemical synaptic transmission TAS 1512224
GO:0010738 regulation of protein kinase A signaling IMP 17081159
genes like me logo Genes that share ontologies with AKAP5: view

No data available for SIGNOR curated interactions for AKAP5 Gene

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 :
(5) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AKAP5 Gene

A kinase (PRKA) anchor protein 5:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for AKAP5 Gene

GeneLoc Exon Structure for
AKAP5
ECgene alternative splicing isoforms for
AKAP5

Expression for AKAP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for AKAP5 Gene



Protein tissue co-expression partners for AKAP5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AKAP5 Gene:

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(4.3)
  • Spleen(4.1)
  • Thyroid gland(4)
  • Nervous system(2.8)
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 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia AKAP5 33 34
  • 86.23 (n)
cow
(Bos Taurus)
Mammalia AKAP5 33 34
  • 85.92 (n)
mouse
(Mus musculus)
Mammalia Akap5 33 16 34
  • 74.1 (n)
rat
(Rattus norvegicus)
Mammalia Akap5 33
  • 74.1 (n)
oppossum
(Monodelphis domestica)
Mammalia AKAP5 34
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKAP5 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKAP5 34
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKAP5 34
  • 29 (a)
OneToOne
Species where no ortholog for AKAP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • 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)

Paralogs for AKAP5 Gene

No data available for Paralogs for AKAP5 Gene

Variants for AKAP5 Gene

Sequence variations from dbSNP and Humsavar for AKAP5 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000036268 -- 64,472,171(+) A/T 3_prime_UTR_variant
rs1000507083 -- 64,474,792(+) T/A downstream_transcript_variant
rs1000765354 -- 64,467,431(+) T/C intron_variant
rs1000826772 -- 64,466,614(+) A/T intron_variant
rs1001107427 -- 64,466,233(+) T/A intron_variant

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

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

Disorders for AKAP5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AKAP5 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
corneal ectasia
ureterolithiasis
  • calculus of ureter
canavan disease
  • canavan-van bogaert-bertrand disease
- elite association - COSMIC cancer census association via MalaCards
Search AKAP5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AKAP5

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 22 58
  2. 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 58
  3. 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 22 58
  4. 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 22 58
  5. Role of protein kinase C-dependent A-kinase anchoring proteins in lysophosphatidic acid-induced cAMP signaling in human diploid fibroblasts. (PMID: 17081159) Rhim JH … Park SC (Aging cell 2006) 3 22 58

Products for AKAP5 Gene

Sources for AKAP5 Gene

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