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Aliases for AKAP6 Gene

Aliases for AKAP6 Gene

  • A-Kinase Anchoring Protein 6 2 3 5
  • Protein Kinase A Anchoring Protein 6 2 3
  • Protein Kinase A-Anchoring Protein 6 3 4
  • A Kinase (PRKA) Anchor Protein 6 2 3
  • A-Kinase Anchor Protein 100 KDa 3 4
  • AKAP 100 3 4
  • AKAP100 3 4
  • AKAP-6 3 4
  • PRKA6 3 4
  • MAKAP 3 4
  • KIAA0311 4
  • ADAP100 3
  • ADAP6 3

External Ids for AKAP6 Gene

Previous GeneCards Identifiers for AKAP6 Gene

  • GC14P030175
  • GC14P026585
  • GC14P030788
  • GC14P031868
  • GC14P032798
  • GC14P012916

Summaries for AKAP6 Gene

Entrez Gene Summary for AKAP6 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 is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]

GeneCards Summary for AKAP6 Gene

AKAP6 (A-Kinase Anchoring Protein 6) is a Protein Coding gene. Among its related pathways are DAG and IP3 signaling and G Protein Signaling Pathways. GO annotations related to this gene include ion channel binding and protein kinase A binding. An important paralog of this gene is CEP68.

UniProtKB/Swiss-Prot for AKAP6 Gene

  • Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the nuclear membrane or sarcoplasmic reticulum. May act as an adapter for assembling multiprotein complexes.

Gene Wiki entry for AKAP6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKAP6 Gene

Genomics for AKAP6 Gene

Regulatory Elements for AKAP6 Gene

Genomic Location for AKAP6 Gene

Chromosome:
14
Start:
32,329,273 bp from pter
End:
32,837,681 bp from pter
Size:
508,409 bases
Orientation:
Plus strand

Genomic View for AKAP6 Gene

Genes around AKAP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKAP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKAP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKAP6 Gene

Proteins for AKAP6 Gene

  • Protein details for AKAP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13023-AKAP6_HUMAN
    Recommended name:
    A-kinase anchor protein 6
    Protein Accession:
    Q13023
    Secondary Accessions:
    • A7E242
    • A7E2D4
    • O15028

    Protein attributes for AKAP6 Gene

    Size:
    2319 amino acids
    Molecular mass:
    256720 Da
    Quaternary structure:
    • Interacts with RII subunit of PKA, phosphatase 2B (calcineurin) and AKAP79.
    SequenceCaution:
    • Sequence=BAA20770.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AKAP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKAP6 Gene

Proteomics data for AKAP6 Gene at MOPED

Post-translational modifications for AKAP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for AKAP6 Gene

Domains & Families for AKAP6 Gene

Gene Families for AKAP6 Gene

Protein Domains for AKAP6 Gene

Graphical View of Domain Structure for InterPro Entry

Q13023

UniProtKB/Swiss-Prot:

AKAP6_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.
  • Contains 2 spectrin repeats.
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.
Similarity:
  • Contains 2 spectrin repeats.
genes like me logo Genes that share domains with AKAP6: view

Function for AKAP6 Gene

Molecular function for AKAP6 Gene

GENATLAS Biochemistry:
A kinase (PRKA regulatory subunit RIIA),anchor protein 6,predominantly expressed in skeletal and cardiac muscle,localized in the sarcoplasmic reticulum
UniProtKB/Swiss-Prot Function:
Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the nuclear membrane or sarcoplasmic reticulum. May act as an adapter for assembling multiprotein complexes.

Gene Ontology (GO) - Molecular Function for AKAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 17923693
GO:0008179 adenylate cyclase binding ISS --
genes like me logo Genes that share ontologies with AKAP6: view
genes like me logo Genes that share phenotypes with AKAP6: view

Animal Models for AKAP6 Gene

MGI Knock Outs for AKAP6:

Animal Model Products

  • Taconic Biosciences Mouse Models for AKAP6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKAP6 Gene

Localization for AKAP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKAP6 Gene

Sarcoplasmic reticulum. Nucleus membrane. Note=In heart muscle. Participation of multiple targeting signals allow correct intracellular targeting. These may be repeated motifs rich in basic and hydrophobic amino acids, palmitoylated/myristoylated motifs or alternatively splice targeting sequences.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AKAP6 Gene COMPARTMENTS Subcellular localization image for AKAP6 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
plasma membrane 4
cytosol 2

Gene Ontology (GO) - Cellular Components for AKAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014704 intercalated disc ISS 9679148
genes like me logo Genes that share ontologies with AKAP6: view

Pathways & Interactions for AKAP6 Gene

genes like me logo Genes that share pathways with AKAP6: view

Pathways by source for AKAP6 Gene

Gene Ontology (GO) - Biological Process for AKAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001508 action potential IC 11299204
GO:0010738 regulation of protein kinase A signaling ISS --
GO:0019933 cAMP-mediated signaling NAS 16177794
GO:0032514 positive regulation of protein phosphatase type 2B activity ISS --
GO:0035556 intracellular signal transduction IBA --
genes like me logo Genes that share ontologies with AKAP6: view

No data available for SIGNOR curated interactions for AKAP6 Gene

Drugs & Compounds for AKAP6 Gene

(2) Drugs for AKAP6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with AKAP6: view

Transcripts for AKAP6 Gene

Unigene Clusters for AKAP6 Gene

A kinase (PRKA) anchor protein 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AKAP6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - - -
SP2: - - -
SP3: -
SP4: - -
SP5: - -

Relevant External Links for AKAP6 Gene

GeneLoc Exon Structure for
AKAP6
ECgene alternative splicing isoforms for
AKAP6

Expression for AKAP6 Gene

mRNA expression in normal human tissues for AKAP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AKAP6 Gene

This gene is overexpressed in Muscle - Skeletal (x5.0) and Heart - Left Ventricle (x4.7).

Protein differential expression in normal tissues from HIPED for AKAP6 Gene

This gene is overexpressed in Nasal epithelium (55.7) and Cerebrospinal fluid (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AKAP6 Gene



SOURCE GeneReport for Unigene cluster for AKAP6 Gene Hs.509083

mRNA Expression by UniProt/SwissProt for AKAP6 Gene

Q13023-AKAP6_HUMAN
Tissue specificity: Highly expressed in cardiac and skeletal muscle, followed by brain.
genes like me logo Genes that share expression patterns with AKAP6: view

Protein tissue co-expression partners for AKAP6 Gene

Primer Products

In Situ Assay Products

Orthologs for AKAP6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKAP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKAP6 35
  • 99.47 (n)
  • 99.14 (a)
AKAP6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AKAP6 36
  • 87 (a)
OneToOne
AKAP6 35
  • 88.92 (n)
  • 87.13 (a)
dog
(Canis familiaris)
Mammalia AKAP6 35
  • 90 (n)
  • 88.09 (a)
AKAP6 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Akap6 16
Akap6 36
  • 81 (a)
OneToOne
Akap6 35
  • 82.97 (n)
  • 81.45 (a)
oppossum
(Monodelphis domestica)
Mammalia AKAP6 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKAP6 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Akap6 35
  • 82.4 (n)
  • 80.1 (a)
chicken
(Gallus gallus)
Aves AKAP6 35
  • 72.46 (n)
  • 68.5 (a)
AKAP6 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKAP6 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akap6 35
  • 57.99 (n)
  • 53.35 (a)
zebrafish
(Danio rerio)
Actinopterygii akap6 36
  • 42 (a)
OneToOne
akap6 35
  • 56.34 (n)
  • 52.61 (a)
Species with no ortholog for AKAP6:
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AKAP6 Gene

ENSEMBL:
Gene Tree for AKAP6 (if available)
TreeFam:
Gene Tree for AKAP6 (if available)

Paralogs for AKAP6 Gene

Paralogs for AKAP6 Gene

(1) SIMAP similar genes for AKAP6 Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with AKAP6: view

Variants for AKAP6 Gene

Sequence variations from dbSNP and Humsavar for AKAP6 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs3742926 - 32,545,663(+) TGCTG(C/T)TCAAC reference, missense
rs17099240 - 32,545,876(+) AGGCA(A/C/G/T)TGGTG reference, missense
rs11845640 - 32,822,288(+) AAAAG(C/T)GCATG reference, missense
rs1051695 - 32,823,916(+) TCAGC(A/G)ACATT reference, missense
rs4647899 - 32,824,325(+) TTGTT(A/T)CTCTA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for AKAP6 Gene

Variant ID Type Subtype PubMed ID
dgv615e1 CNV Complex 17122850
esv2748568 CNV Deletion 23290073
nsv901595 CNV Loss 21882294
esv1006050 CNV Deletion 20482838
nsv9130 CNV Loss 18304495
esv2527143 CNV Loss 19546169
nsv512355 CNV Loss 21212237
esv2660088 CNV Deletion 23128226
nsv1235 CNV Loss 18451855
nsv826913 CNV Loss 20364138
esv24421 CNV Gain 19812545
nsv832765 CNV Gain+Loss 17160897
esv2676070 CNV Deletion 23128226
esv2748569 CNV Deletion 23290073
esv269549 CNV Insertion 20981092
nsv524649 CNV Loss 19592680

Variation tolerance for AKAP6 Gene

Residual Variation Intolerance Score: 4.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.55; 94.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AKAP6 Gene

HapMap Linkage Disequilibrium report
AKAP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKAP6 Gene

Disorders for AKAP6 Gene

Relevant External Links for AKAP6

Genetic Association Database (GAD)
AKAP6
Human Genome Epidemiology (HuGE) Navigator
AKAP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AKAP6

No disorders were found for AKAP6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AKAP6 Gene

Publications for AKAP6 Gene

  1. Cloning and characterization of A-kinase anchor protein 100 (AKAP100). A protein that targets A-kinase to the sarcoplasmic reticulum. (PMID: 7721854) McCartney S. … Scott J.D. (J. Biol. Chem. 1995) 2 3 4 23 67
  2. cAMP-stimulated protein phosphatase 2A activity associated with muscle A kinase-anchoring protein (mAKAP) signaling complexes inhibits the phosphorylation and activity of the cAMP-specific phosphodiesterase PDE4D3. (PMID: 20106966) Dodge-Kafka K.L. … Kapiloff M.S. (J. Biol. Chem. 2010) 3 23
  3. The protein kinase A anchoring protein mAKAP coordinates two integrated cAMP effector pathways. (PMID: 16177794) Dodge-Kafka K.L. … Scott J.D. (Nature 2005) 3 23
  4. Sodium/calcium exchanger (NCX1) macromolecular complex. (PMID: 12754202) Schulze D.H. … Ruknudin A.M. (J. Biol. Chem. 2003) 3 23
  5. mAKAP and the ryanodine receptor are part of a multi-component signaling complex on the cardiomyocyte nuclear envelope. (PMID: 11590243) Kapiloff M.S. … Airhart N. (J. Cell. Sci. 2001) 3 23

Products for AKAP6 Gene

Sources for AKAP6 Gene

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