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Aliases for AKAP10 Gene

Aliases for AKAP10 Gene

  • A-Kinase Anchoring Protein 10 2 3 5
  • Mitochondrial A Kinase PPKA Anchor Protein 10 2 3
  • Dual Specificity A Kinase-Anchoring Protein 2 3 4
  • Protein Kinase A Anchoring Protein 10 2 3
  • A Kinase (PRKA) Anchor Protein 10 2 3
  • D-AKAP-2 3 4
  • AKAP-10 3 4
  • PRKA10 3 4
  • Dual-Specificity A-Kinase Anchoring Protein 2 2
  • A-Kinase Anchor Protein 10, Mitochondrial 3
  • Protein Kinase A-Anchoring Protein 10 4
  • A Kinase Anchor Protein 10 3
  • D-AKAP2 3

External Ids for AKAP10 Gene

Previous GeneCards Identifiers for AKAP10 Gene

  • GC17M019978
  • GC17M021445
  • GC17M019712
  • GC17M019970
  • GC17M019749
  • GC17M019192

Summaries for AKAP10 Gene

Entrez Gene Summary for AKAP10 Gene

  • This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]

GeneCards Summary for AKAP10 Gene

AKAP10 (A-Kinase Anchoring Protein 10) is a Protein Coding gene. Diseases associated with AKAP10 include Cardiac Conduction Defect and Heart Conduction Disease. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Activation of cAMP-Dependent PKA.

UniProtKB/Swiss-Prot for AKAP10 Gene

  • 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).

Gene Wiki entry for AKAP10 Gene

Additional gene information for AKAP10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKAP10 Gene

Genomics for AKAP10 Gene

GeneHancer (GH) Regulatory Elements for AKAP10 Gene

Promoters and enhancers for AKAP10 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
GH17I019976 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 586.6 +0.4 423 2.8 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 AKAP10 ENSG00000261033 FAM83G KRT16P3 PIR61765
GH17I019979 Enhancer 0.5 ENCODE 550.8 -1.7 -1700 1.2 SP1 POLR2A BACH1 ZBTB33 AKAP10 GC17P019998
GH17I020008 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 42.3 -31.9 -31931 3.5 HDGF PKNOX1 ARNT SIN3A ZNF2 ZNF207 ZNF143 KLF13 SP3 ZHX2 ENSG00000261033 SPECC1 AKAP10 MEIS3P2 MAPK7 LGALS9B UPF3AP2 ENSG00000262202 ENSG00000264932 ULK2
GH17I020072 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 43.1 -95.3 -95254 2.5 ZBTB21 ZNF335 ZFHX2 ZNF366 POLR2A SCRT2 PRDM10 RUNX3 SCRT1 ELF1 SPECC1 AKAP10 LOC105371579 ENSG00000225681
GH17I020089 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 39 -113.3 -113320 4 INSM2 KLF17 MZF1 FEZF1 ZNF2 ZSCAN5C SCRT2 RXRA REST ZEB2 AKAP10 MAPK7 SPECC1 ENSG00000262202 ENSG00000264932 LOC105371579 KCTD9P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AKAP10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AKAP10 gene promoter:

Genomic Locations for AKAP10 Gene

Genomic Locations for AKAP10 Gene
chr17:19,904,302-19,978,343
(GRCh38/hg38)
Size:
74,042 bases
Orientation:
Minus strand
chr17:19,807,615-19,881,656
(GRCh37/hg19)

Genomic View for AKAP10 Gene

Genes around AKAP10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKAP10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKAP10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKAP10 Gene

Proteins for AKAP10 Gene

  • Protein details for AKAP10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43572-AKA10_HUMAN
    Recommended name:
    A-kinase anchor protein 10, mitochondrial
    Protein Accession:
    O43572
    Secondary Accessions:
    • B2R650
    • Q96AJ7

    Protein attributes for AKAP10 Gene

    Size:
    662 amino acids
    Molecular mass:
    73818 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for AKAP10 Gene

neXtProt entry for AKAP10 Gene

Post-translational modifications for AKAP10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AKAP10 Gene

Domains & Families for AKAP10 Gene

Gene Families for AKAP10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for AKAP10 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AKAP10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43572

UniProtKB/Swiss-Prot:

AKA10_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 AKAP10: view

Function for AKAP10 Gene

Molecular function for AKAP10 Gene

GENATLAS Biochemistry:
A kinase (PRKA regulatory subunits RIA and RIIA) anchor protein 10
UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for AKAP10 Gene

Gene Ontology (GO) - Molecular Function for AKAP10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20159461
GO:0016301 kinase activity IEA --
GO:0051018 protein kinase A binding IPI 25097019
genes like me logo Genes that share ontologies with AKAP10: view
genes like me logo Genes that share phenotypes with AKAP10: view

Animal Models for AKAP10 Gene

MGI Knock Outs for AKAP10:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKAP10 Gene

Localization for AKAP10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKAP10 Gene

Mitochondrion. Membrane. Cytoplasm. Note=Predominantly mitochondrial but also membrane associated and cytoplasmic.

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 AKAP10 gene
Compartment Confidence
plasma membrane 5
cytosol 5
mitochondrion 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKAP10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA --
GO:0005829 cytosol TAS,IDA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AKAP10: view

Pathways & Interactions for AKAP10 Gene

genes like me logo Genes that share pathways with AKAP10: view

Pathways by source for AKAP10 Gene

Gene Ontology (GO) - Biological Process for AKAP10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 9326583
GO:0007596 blood coagulation TAS --
GO:0008104 protein localization IBA,IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with AKAP10: view

No data available for SIGNOR curated interactions for AKAP10 Gene

Drugs & Compounds for AKAP10 Gene

(1) Additional Compounds for AKAP10 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
9-cis-Retinal
  • 9-cis-Retinal
  • 9-cis-Retinaldehyde
  • 9-cis-Vitamin A aldehyde
  • cis-9-Retinal
  • Isoretinene A
514-85-2
genes like me logo Genes that share compounds with AKAP10: view

Transcripts for AKAP10 Gene

Unigene Clusters for AKAP10 Gene

A kinase (PRKA) anchor protein 10:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for AKAP10 Gene

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

Relevant External Links for AKAP10 Gene

GeneLoc Exon Structure for
AKAP10
ECgene alternative splicing isoforms for
AKAP10

Expression for AKAP10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AKAP10 Gene

Protein differential expression in normal tissues from HIPED for AKAP10 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (39.1), Bone (12.2), and Testis (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKAP10 Gene



Protein tissue co-expression partners for AKAP10 Gene

NURSA nuclear receptor signaling pathways regulating expression of AKAP10 Gene:

AKAP10

SOURCE GeneReport for Unigene cluster for AKAP10 Gene:

Hs.642676

Evidence on tissue expression from TISSUES for AKAP10 Gene

  • Nervous system(4.6)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with AKAP10: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKAP10 Gene

Orthologs for AKAP10 Gene

This gene was present in the common ancestor of animals.

Orthologs for AKAP10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKAP10 33 34
  • 97.51 (n)
dog
(Canis familiaris)
Mammalia AKAP10 33 34
  • 94.21 (n)
rat
(Rattus norvegicus)
Mammalia Akap10 33
  • 90.94 (n)
mouse
(Mus musculus)
Mammalia Akap10 33 16 34
  • 90.63 (n)
cow
(Bos Taurus)
Mammalia AKAP10 33 34
  • 90.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AKAP10 34
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AKAP10 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKAP10 33 34
  • 80.96 (n)
lizard
(Anolis carolinensis)
Reptilia AKAP10 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akap10 33
  • 71.59 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13624 33
zebrafish
(Danio rerio)
Actinopterygii akap10 33 34
  • 64.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta pkaap 35 33 34
  • 44.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007895 33
  • 43.67 (n)
worm
(Caenorhabditis elegans)
Secernentea rgs-5 34
  • 26 (a)
OneToOne
Species where no ortholog for AKAP10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)

Evolution for AKAP10 Gene

ENSEMBL:
Gene Tree for AKAP10 (if available)
TreeFam:
Gene Tree for AKAP10 (if available)

Paralogs for AKAP10 Gene

No data available for Paralogs for AKAP10 Gene

Variants for AKAP10 Gene

Sequence variations from dbSNP and Humsavar for AKAP10 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs203462 risk-factor, Cardiac conduction defect, susceptibility to 19,909,228(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1057523948 uncertain-significance, not specified 19,909,192(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000032878 -- 19,959,475(-) T/C intron_variant
rs1000094371 -- 19,959,006(-) C/T intron_variant
rs1000147763 -- 19,918,036(-) A/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AKAP10 Gene

Variant ID Type Subtype PubMed ID
esv1070888 CNV deletion 17803354
esv3640185 CNV loss 21293372
nsv1061317 CNV gain 25217958
nsv1063892 CNV gain 25217958
nsv507837 OTHER sequence alteration 20534489
nsv833394 CNV gain 17160897

Variation tolerance for AKAP10 Gene

Residual Variation Intolerance Score: 42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.66; 96.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKAP10 Gene

Human Gene Mutation Database (HGMD)
AKAP10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKAP10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKAP10 Gene

Disorders for AKAP10 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AKAP10 Gene - From: OMIM and GTR

Disorder Aliases PubMed IDs
cardiac conduction defect
  • scd
heart conduction disease
  • heart rhythm disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AKA10_HUMAN
  • Sudden cardiac death (SCD) [MIM:115080]: Unexpected rapid death due to cardiovascular collapse in a short time period, generally 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. {ECO:0000269 PubMed:17485678}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. 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.

Additional Disease Information for AKAP10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AKAP10: view

No data available for Genatlas for AKAP10 Gene

Publications for AKAP10 Gene

  1. The Ile646Val (2073A>G) polymorphism in the kinase-binding domain of A-kinase anchoring protein 10 and the risk of colorectal cancer. (PMID: 19209010) Wang MJ … Sun XF (Oncology 2009) 3 22 44 58
  2. Association of the A1936G (rs203462) of A-kinase anchoring protein 10 polymorphisms with QT interval prolongation during kidney transplantation. (PMID: 19857670) Zukowski M … Brykczyński M (Transplantation proceedings 2009) 3 22 44 58
  3. The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer. (PMID: 16956908) Wirtenberger M … Burwinkel B (Carcinogenesis 2007) 3 22 44 58
  4. Gene-trapped mouse embryonic stem cell-derived cardiac myocytes and human genetics implicate AKAP10 in heart rhythm regulation. (PMID: 17485678) Tingley WG … Conklin BR (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 58
  5. Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: a disease susceptibility polymorphism. (PMID: 12646697) Kammerer S … Braun A (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 22 44 58

Products for AKAP10 Gene

Sources for AKAP10 Gene

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