Human Gene AKAP10 (ENST00000225737.11_7) from GENCODE V47lift37
  Description: A-kinase anchoring protein 10, transcript variant 1 (from RefSeq NM_007202.4)
Gencode Transcript: ENST00000225737.11_7
Gencode Gene: ENSG00000108599.15_10
Transcript (Including UTRs)
   Position: hg19 chr17:19,807,615-19,881,141 Size: 73,527 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr17:19,809,540-19,880,992 Size: 71,453 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:19,807,615-19,881,141)mRNA (may differ from genome)Protein (662 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AKA10_HUMAN
DESCRIPTION: RecName: Full=A-kinase anchor protein 10, mitochondrial; Short=AKAP-10; AltName: Full=Dual specificity A kinase-anchoring protein 2; Short=D-AKAP-2; AltName: Full=Protein kinase A-anchoring protein 10; Short=PRKA10; Flags: Precursor;
FUNCTION: Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity).
SUBCELLULAR LOCATION: Mitochondrion. Membrane. Cytoplasm. Note=Predominantly mitochondrial but also membrane associated and cytoplasmic.
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.
DISEASE: Genetic variations in AKAP10 are a cause of susceptibility to sudden cardiac death (SCD) [MIM:115080]. Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as chest pain and cardiac arrhythmias, particularly ventricular tachycardia, can lead to the loss of consciousness and cardiac arrest followed by biological death. Note=Increased susceptibility to sudden cardiac death may be conferred by AKAP10 variants that are associated with markers of low vagus nerve sensitivity, e.g. fast basal heart rate and low heart rate variability.
SIMILARITY: Contains 2 RGS domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AKAP10
Diseases sorted by gene-association score: cardiac conduction defect* (550), sudden cardiac death (9)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.31 RPKM in Spleen
Total median expression: 354.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.50149-0.453 Picture PostScript Text
3' UTR -492.501925-0.256 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000342 - Regulat_G_prot_signal
IPR016137 - Regulat_G_prot_signal_superfam

Pfam Domains:
PF00615 - Regulator of G protein signaling domain

SCOP Domains:
48097 - Regulator of G-protein signaling, RGS

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3IM4 - X-ray MuPIT 3TMH - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O43572
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0051018 protein kinase A binding

Biological Process:
GO:0007165 signal transduction
GO:0007596 blood coagulation
GO:0008104 protein localization

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  BC017055 - Homo sapiens A kinase (PRKA) anchor protein 10, mRNA (cDNA clone MGC:9414 IMAGE:3882941), complete cds.
JD366841 - Sequence 347865 from Patent EP1572962.
JD469665 - Sequence 450689 from Patent EP1572962.
JD113146 - Sequence 94170 from Patent EP1572962.
U00957 - Human clone KDB1.2 (CAC)n/(GTG)n repeat-containing mRNA.
JD176073 - Sequence 157097 from Patent EP1572962.
JD299774 - Sequence 280798 from Patent EP1572962.
JD509022 - Sequence 490046 from Patent EP1572962.
JD509792 - Sequence 490816 from Patent EP1572962.
JD222286 - Sequence 203310 from Patent EP1572962.
JD190595 - Sequence 171619 from Patent EP1572962.
JD069023 - Sequence 50047 from Patent EP1572962.
AF037439 - Homo sapiens protein kinase A anchoring protein mRNA, complete cds.
JD303512 - Sequence 284536 from Patent EP1572962.
JD207877 - Sequence 188901 from Patent EP1572962.
JD520103 - Sequence 501127 from Patent EP1572962.
AK308297 - Homo sapiens cDNA, FLJ98245.
DQ891477 - Synthetic construct clone IMAGE:100004107; FLH177332.01X; RZPDo839G05124D A kinase (PRKA) anchor protein 10 (AKAP10) gene, encodes complete protein.
AB590263 - Synthetic construct DNA, clone: pFN21AE2233, Homo sapiens AKAP10 gene for A kinase (PRKA) anchor protein 10, without stop codon, in Flexi system.
DQ270159 - Homo sapiens mitochondrial A kinase PPKA anchor protein 10 mRNA, complete cds, alternatively spliced; nuclear gene for mitochondrial product.
DQ894666 - Synthetic construct Homo sapiens clone IMAGE:100009126; FLH177329.01L; RZPDo839G05123D A kinase (PRKA) anchor protein 10 (AKAP10) gene, encodes complete protein.
KU178546 - Homo sapiens A kinase anchor protein 10 isoform 1 (AKAP10) mRNA, partial cds.
KU178547 - Homo sapiens A kinase anchor protein 10 isoform 2 (AKAP10) mRNA, complete cds, alternatively spliced.
KU178548 - Homo sapiens A kinase anchor protein 10 isoform 3 (AKAP10) mRNA, partial cds, alternatively spliced.
KU178549 - Homo sapiens A kinase anchor protein 10 isoform 4 (AKAP10) mRNA, complete cds, alternatively spliced.
KU178550 - Homo sapiens A kinase anchor protein 10 isoform 5 (AKAP10) mRNA, partial cds, alternatively spliced.
AK312438 - Homo sapiens cDNA, FLJ92785, Homo sapiens A kinase (PRKA) anchor protein 10 (AKAP10), nucleargene encoding mitochondrial protein, mRNA.
BC111518 - Homo sapiens cDNA clone IMAGE:40018207.
AK295180 - Homo sapiens cDNA FLJ51690 complete cds, weakly similar to A kinase anchor protein 10, mitochondrial precursor.
CU677815 - Synthetic construct Homo sapiens gateway clone IMAGE:100019988 5' read AKAP10 mRNA.
DQ600654 - Homo sapiens piRNA piR-38720, complete sequence.
JD226897 - Sequence 207921 from Patent EP1572962.
JD181851 - Sequence 162875 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O43572 (Reactome details) participates in the following event(s):

R-HSA-992708 Dual-specific AKAPs bind type I and II PKA regulatory subunits
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: AKA10_HUMAN, B2R650, ENST00000225737.1, ENST00000225737.10, ENST00000225737.2, ENST00000225737.3, ENST00000225737.4, ENST00000225737.5, ENST00000225737.6, ENST00000225737.7, ENST00000225737.8, ENST00000225737.9, NM_007202, O43572, Q96AJ7, uc317dka.1, uc317dka.2
UCSC ID: ENST00000225737.11_7
RefSeq Accession: NM_007202.4
Protein: O43572 (aka AKA10_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.