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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
  • 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
  • Protein Kinase A-Anchoring Protein 6 4
  • A-Kinase Anchor Protein 6 3
  • 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 Activation of cAMP-Dependent PKA and DAG and IP3 signaling. Gene Ontology (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

Additional gene information for AKAP6 Gene

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

Genomics for AKAP6 Gene

GeneHancer (GH) Regulatory Elements for AKAP6 Gene

Promoters and enhancers for AKAP6 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
GH14I032364 Promoter/Enhancer 0.9 EPDnew dbSUPER 560 +35.7 35723 0.1 POLR2A RCOR1 CHD2 AKAP6 GC14P032363 ENSG00000258580
GH14I032330 Enhancer 0.8 FANTOM5 ENCODE 553.2 +1.7 1742 1.8 MAFG DPF2 ZBTB40 ZNF316 SMARCA4 POLR2A VEZF1 NFE2 CREM EMSY AKAP6 GC14P032363
GH14I032329 Promoter 0.8 EPDnew 550.8 +0.0 18 0.1 MXI1 RFX1 POLR2A RCOR1 BMI1 RFX5 AKAP6 GC14P032363
GH14I032467 Enhancer 1.7 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10 +142.4 142383 7.4 PKNOX1 FOXA2 RAD21 RFX5 YY1 SCRT2 RCOR1 ATF7 THAP11 ZNF654 AKAP6 MTCO1P2 RN7SL660P
GH14I032200 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 7 -126.9 -126879 4.1 PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 GC14P032203 RNU6-7 RNU6-8 HECTD1 NPAS3 AKAP6 ARHGAP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AKAP6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AKAP6 gene promoter:

Genomic Locations for AKAP6 Gene

Genomic Locations for AKAP6 Gene
chr14:32,329,273-32,837,681
(GRCh38/hg38)
Size:
508,409 bases
Orientation:
Plus strand
chr14:32,798,479-33,302,268
(GRCh37/hg19)

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. Interacts with SYNPO2.
    SequenceCaution:
    • Sequence=BAA20770.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AKAP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKAP6 Gene

Post-translational modifications for AKAP6 Gene

No Post-translational modifications

No data available for DME Specific Peptides for AKAP6 Gene

Domains & Families for AKAP6 Gene

Gene Families for AKAP6 Gene

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

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.
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.
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.

Phenotypes From GWAS Catalog for AKAP6 Gene

Gene Ontology (GO) - Molecular Function for AKAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17923693
GO:0008179 adenylate cyclase binding ISS --
GO:0032947 protein complex scaffold activity ISS --
GO:0034237 protein kinase A regulatory subunit binding ISS --
GO:0043495 protein membrane anchor ISS 10413680
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:

Clone Products

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
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 AKAP6 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
plasma membrane 4
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for AKAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IDA 10413680
GO:0005737 cytoplasm ISS --
GO:0005901 caveola ISS --
GO:0014701 junctional sarcoplasmic reticulum membrane ISS --
genes like me logo Genes that share ontologies with AKAP6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AKAP6 Gene

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:0006605 protein targeting NAS 7721854
GO:0010738 regulation of protein kinase A signaling ISS --
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IC --
GO:0019933 cAMP-mediated signaling NAS 16177794
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for AKAP6 Gene



Protein tissue co-expression partners for AKAP6 Gene

NURSA nuclear receptor signaling pathways regulating expression of AKAP6 Gene:

AKAP6

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.

Evidence on tissue expression from TISSUES for AKAP6 Gene

  • Nervous system(4.8)
  • Heart(2.9)
  • Muscle(2.9)
genes like me logo Genes that share expression patterns with AKAP6: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AKAP6 Gene

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 33 34
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia AKAP6 33 34
  • 90 (n)
cow
(Bos Taurus)
Mammalia AKAP6 33 34
  • 88.92 (n)
mouse
(Mus musculus)
Mammalia Akap6 33 16 34
  • 82.97 (n)
rat
(Rattus norvegicus)
Mammalia Akap6 33
  • 82.4 (n)
oppossum
(Monodelphis domestica)
Mammalia AKAP6 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKAP6 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKAP6 33 34
  • 72.46 (n)
lizard
(Anolis carolinensis)
Reptilia AKAP6 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akap6 33
  • 57.99 (n)
zebrafish
(Danio rerio)
Actinopterygii akap6 33 34
  • 56.34 (n)
Species where no ortholog for AKAP6 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)
  • 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 Variation AA Info Type
rs745389246 A colorectal cancer sample 32,823,328(+) C/A coding_sequence_variant, missense_variant
VAR_035781 A breast cancer sample p.Lys910Met
VAR_035782 A breast cancer sample p.Met1192Ile
VAR_035783 A breast cancer sample p.Glu1702Gln
rs1064797187 uncertain-significance, not provided 32,545,378(+) A/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv974324 CNV duplication 23825009
nsv958794 CNV deletion 24416366
nsv958771 CNV deletion 24416366
nsv9130 CNV loss 18304495
nsv832765 CNV gain+loss 17160897
nsv826913 CNV loss 20364138
nsv524649 CNV loss 19592680
nsv512355 CNV loss 21212237
nsv478742 CNV novel sequence insertion 20440878
nsv473592 CNV novel sequence insertion 20440878
nsv1235 CNV deletion 18451855
nsv1143748 CNV deletion 24896259
nsv1138287 CNV deletion 24896259
nsv1112646 CNV deletion 24896259
nsv1043311 CNV gain 25217958
esv3633990 CNV loss 21293372
esv3633989 CNV loss 21293372
esv3633987 CNV loss 21293372
esv3633986 CNV loss 21293372
esv3633984 CNV loss 21293372
esv3633983 CNV loss 21293372
esv3581102 CNV loss 25503493
esv3551341 CNV deletion 23714750
esv3439687 CNV insertion 20981092
esv3369127 CNV insertion 20981092
esv3361401 CNV insertion 20981092
esv3305271 CNV mobile element insertion 20981092
esv2759978 CNV gain+loss 17122850
esv2748569 CNV deletion 23290073
esv2748568 CNV deletion 23290073
esv2676070 CNV deletion 23128226
esv2660088 CNV deletion 23128226
esv2527143 CNV loss 19546169
esv24421 CNV gain 19812545
esv1006050 CNV deletion 20482838
dgv622e212 CNV loss 25503493
dgv621e212 CNV loss 25503493

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)

Additional Variant Information for AKAP6 Gene

Human Gene Mutation Database (HGMD)
AKAP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKAP6

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

Disorders for AKAP6 Gene

Additional Disease Information for AKAP6

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

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 JD (The Journal of biological chemistry 1995) 2 3 4 22 58
  2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
  3. A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa. (PMID: 21079607) Wang K … Price Foundation Collaborative Group (Molecular psychiatry 2011) 3 44 58
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 44 58
  5. 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 KL … Kapiloff MS (The Journal of biological chemistry 2010) 3 22 58

Products for AKAP6 Gene

Sources for AKAP6 Gene

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