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Aliases for AKAP7 Gene

Aliases for AKAP7 Gene

  • A-Kinase Anchoring Protein 7 2 3 5
  • A Kinase (PRKA) Anchor Protein 7 2 3
  • A-Kinase Anchor Protein 18 KDa 3 4
  • AKAP-7 Isoforms Alpha And Beta 3 4
  • PRKA7 Isoforms Alpha/Beta 3 4
  • AKAP-7 Isoform Gamma 3 4
  • PRKA7 Isoform Gamma 3 4
  • AKAP 18 3 4
  • AKAP15 3 4
  • AKAP18 3 4
  • Protein Kinase A-Anchoring Protein 7 Isoforms Alpha/Beta 4
  • Protein Kinase A-Anchoring Protein 7 Isoform Gamma 4
  • A-Kinase Anchor Protein 7 Isoforms Alpha And Beta 3
  • A-Kinase Anchor Protein 7 Isoform Gamma 3
  • A-Kinase Anchor Protein 9 KDa 3
  • A-Kinase Anchor Protein 7 3

External Ids for AKAP7 Gene

Previous GeneCards Identifiers for AKAP7 Gene

  • GC06P131313
  • GC06P131447
  • GC06P131508
  • GC06P129047

Summaries for AKAP7 Gene

Entrez Gene Summary for AKAP7 Gene

  • This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]

GeneCards Summary for AKAP7 Gene

AKAP7 (A-Kinase Anchoring Protein 7) is a Protein Coding gene. Among its related pathways are Activation of cAMP-Dependent PKA and Signal transduction_PKA signaling. GO annotations related to this gene include nucleotide binding and protein kinase A binding.

UniProtKB/Swiss-Prot for AKAP7 Gene

  • Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling to the L-type calcium channel. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium.

  • Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal structures. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium.

Gene Wiki entry for AKAP7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKAP7 Gene

Genomics for AKAP7 Gene

Regulatory Elements for AKAP7 Gene

Enhancers for AKAP7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G131134 1 ENCODE 33.9 +0.0 37 2.3 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 KLF7 ZHX2 AKAP7 LOC100421246
GH06G131106 1.1 Ensembl ENCODE 10.8 -28.2 -28248 1.6 PKNOX1 FOXA2 BMI1 GATA4 POLR3A GATA2 FOS RELB IKZF2 CEBPB AKAP7 EPB41L2 SMLR1 LOC102723445 PIR44982
GH06G131399 1.1 Ensembl ENCODE 10.3 +264.8 264780 1.8 ZBTB21 JUN BRCA1 ZEB1 FOSL1 GATA3 ZNF366 PRDM10 NFE2 FOS AKAP7 LOC105378005 LOC100421246
GH06G131023 1 Ensembl ENCODE 11.3 -111.3 -111339 1.1 KLF1 JUN ZNF133 MAX GATA3 ZNF600 FOS ZNF362 BHLHE40 OVOL3 AKAP7 EPB41L2 SMLR1
GH06G130992 1.5 Ensembl ENCODE dbSUPER 7.4 -141.8 -141812 2.4 ATF1 YY1 ETS1 TCF12 ZNF766 ELK1 SP5 NCOA1 REST ZNF592 EPB41L2 AKAP7 SMLR1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AKAP7 on UCSC Golden Path with GeneCards custom track

Promoters for AKAP7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000202809 234 1800 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 KLF7 ZHX2

Genomic Location for AKAP7 Gene

Chromosome:
6
Start:
131,135,666 bp from pter
End:
131,283,535 bp from pter
Size:
147,870 bases
Orientation:
Plus strand

Genomic View for AKAP7 Gene

Genes around AKAP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKAP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKAP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKAP7 Gene

Proteins for AKAP7 Gene

  • Protein details for AKAP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43687-AKA7A_HUMAN
    Recommended name:
    A-kinase anchor protein 7 isoforms alpha and beta
    Protein Accession:
    O43687
    Secondary Accessions:
    • A8K2K6
    • Q5TBR9
    • Q5TBS0
    • Q9HCZ8
    • Q9P0G4

    Protein attributes for AKAP7 Gene

    Size:
    104 amino acids
    Molecular mass:
    11465 Da
    Quaternary structure:
    • Binds cAMP-dependent protein kinase (PKA). Interacts with PRKCA; only the cytoplasmic form is capable of interacting with PRKCA.

    Alternative splice isoforms for AKAP7 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for AKAP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0M2-AKA7G_HUMAN
    Recommended name:
    A-kinase anchor protein 7 isoform gamma
    Protein Accession:
    Q9P0M2
    Secondary Accessions:
    • B4DUC3
    • Q9HCZ8

    Protein attributes for AKAP7 Gene

    Size:
    348 amino acids
    Molecular mass:
    39518 Da
    Quaternary structure:
    • Binds cAMP-dependent protein kinase (PKA). Interacts with PRKCA; only the cytoplasmic form is capable of interacting with PRKCA.
    SequenceCaution:
    • Sequence=AAF28106.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI19003.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI19788.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21509.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AKAP7 Gene

    Alternative splice isoforms for AKAP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKAP7 Gene

Post-translational modifications for AKAP7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for AKAP7
  • Santa Cruz Biotechnology (SCBT) Antibodies for AKAP7

No data available for DME Specific Peptides for AKAP7 Gene

Domains & Families for AKAP7 Gene

Gene Families for AKAP7 Gene

Protein Domains for AKAP7 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AKAP7: view

No data available for UniProtKB/Swiss-Prot for AKAP7 Gene

Function for AKAP7 Gene

Molecular function for AKAP7 Gene

GENATLAS Biochemistry:
A kinase (PRKA regulatory subunit RIIA) anchor protein 7,potentially involved in ion channel activation
UniProtKB/Swiss-Prot Function:
Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling to the L-type calcium channel. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium.
UniProtKB/Swiss-Prot Function:
Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal structures. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium.

Gene Ontology (GO) - Molecular Function for AKAP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 17244820
GO:0016301 kinase activity IEA --
GO:0019901 protein kinase binding IEA --
GO:0034237 protein kinase A regulatory subunit binding IEA,IBA --
genes like me logo Genes that share ontologies with AKAP7: view
genes like me logo Genes that share phenotypes with AKAP7: view

Animal Models for AKAP7 Gene

MGI Knock Outs for AKAP7:

Animal Model Products

miRNA for AKAP7 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKAP7 Gene

Localization for AKAP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKAP7 Gene

Isoform Alpha: Lateral cell membrane; Lipid-anchor. Note=Targeted predominantly to the lateral membrane.
Isoform Beta: Apical cell membrane; Lipid-anchor. Note=Targeted predominantly to the apical membrane.
Nucleus. Cytoplasm.

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 AKAP7 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for AKAP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 10613906
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with AKAP7: view

Pathways & Interactions for AKAP7 Gene

genes like me logo Genes that share pathways with AKAP7: view

Pathways by source for AKAP7 Gene

1 BioSystems pathway for AKAP7 Gene
1 GeneGo (Thomson Reuters) pathway for AKAP7 Gene

Gene Ontology (GO) - Biological Process for AKAP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001508 action potential IC --
GO:0006811 ion transport TAS --
GO:0008104 protein localization IC,IBA --
GO:0008150 biological_process ND --
GO:0010738 regulation of protein kinase A signaling IBA --
genes like me logo Genes that share ontologies with AKAP7: view

No data available for SIGNOR curated interactions for AKAP7 Gene

Drugs & Compounds for AKAP7 Gene

(2) Drugs for AKAP7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
calcium Nutra 0
genes like me logo Genes that share compounds with AKAP7: view

Transcripts for AKAP7 Gene

Unigene Clusters for AKAP7 Gene

A kinase (PRKA) anchor protein 7:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for AKAP7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8
SP1:
SP2:
SP3: -
SP4: - - -

Relevant External Links for AKAP7 Gene

GeneLoc Exon Structure for
AKAP7
ECgene alternative splicing isoforms for
AKAP7

Expression for AKAP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AKAP7 Gene

mRNA differential expression in normal tissues according to GTEx for AKAP7 Gene

This gene is overexpressed in Adrenal Gland (x5.5) and Pancreas (x4.3).

Protein differential expression in normal tissues from HIPED for AKAP7 Gene

This gene is overexpressed in Fetal Brain (33.7), Pancreas (11.1), and Adrenal (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKAP7 Gene



Protein tissue co-expression partners for AKAP7 Gene

NURSA nuclear receptor signaling pathways regulating expression of AKAP7 Gene:

AKAP7

SOURCE GeneReport for Unigene cluster for AKAP7 Gene:

Hs.486483

mRNA Expression by UniProt/SwissProt for AKAP7 Gene:

O43687-AKA7A_HUMAN
Tissue specificity: Expressed in brain, heart, lung, pancreas and skeletal muscle.

Evidence on tissue expression from TISSUES for AKAP7 Gene

  • Nervous system(4.8)
  • Adrenal gland(4.3)
  • Intestine(4.2)
  • Liver(4.2)
  • Lung(4.2)
  • Heart(2.2)
  • Muscle(2.2)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with AKAP7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKAP7 Gene

Orthologs for AKAP7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKAP7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKAP7 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia AKAP7 34 35
  • 84.57 (n)
mouse
(Mus musculus)
Mammalia Akap7 34 16 35
  • 81.78 (n)
rat
(Rattus norvegicus)
Mammalia Akap7 34
  • 79.98 (n)
cow
(Bos Taurus)
Mammalia AKAP7 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKAP7 35
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AKAP7 35
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKAP7 34 35
  • 65.83 (n)
lizard
(Anolis carolinensis)
Reptilia AKAP7 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akap7 34
  • 55.47 (n)
zebrafish
(Danio rerio)
Actinopterygii akap7 35
  • 32 (a)
OneToOne
Species where no ortholog for AKAP7 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 AKAP7 Gene

ENSEMBL:
Gene Tree for AKAP7 (if available)
TreeFam:
Gene Tree for AKAP7 (if available)

Paralogs for AKAP7 Gene

(1) SIMAP similar genes for AKAP7 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with AKAP7: view

No data available for Paralogs for AKAP7 Gene

Variants for AKAP7 Gene

Sequence variations from dbSNP and Humsavar for AKAP7 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000010555 -- 131,161,310(+) TTACT(C/G)ATACA intron-variant
rs1000059574 -- 131,185,593(+) GAACA(C/T)CTTTT intron-variant
rs1000061705 -- 131,183,784(+) AGCAG(A/G)AACAG intron-variant
rs1000078614 -- 131,185,920(+) TCTAT(G/T)TTTTT intron-variant
rs1000110374 -- 131,254,019(+) TTGCC(A/G)GTGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AKAP7 Gene

Variant ID Type Subtype PubMed ID
esv3610806 CNV gain 21293372
esv3610808 CNV gain 21293372
esv3610809 CNV gain 21293372
nsv1109816 CNV deletion 24896259
nsv1124118 CNV deletion 24896259
nsv507362 OTHER sequence alteration 20534489
nsv830807 CNV loss 17160897
nsv830808 CNV loss 17160897

Variation tolerance for AKAP7 Gene

Residual Variation Intolerance Score: 90.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.40; 88.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AKAP7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKAP7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKAP7 Gene

Disorders for AKAP7 Gene

Relevant External Links for AKAP7

Genetic Association Database (GAD)
AKAP7
Human Genome Epidemiology (HuGE) Navigator
AKAP7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AKAP7

No disorders were found for AKAP7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AKAP7 Gene

Publications for AKAP7 Gene

  1. Alternative splicing regulates the subcellular localization of A- kinase anchoring protein 18 isoforms. (PMID: 10613906) Trotter K.W. … Milgram S.L. (J. Cell Biol. 1999) 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. The A-kinase anchoring protein 15 regulates feedback inhibition of the epithelial Na+ channel. (PMID: 17244820) Bengrine A. … Awayda M.S. (FASEB J. 2007) 3 4 64
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  5. A novel lipid-anchored A-kinase anchoring protein facilitates cAMP- responsive membrane events. (PMID: 9545239) Fraser I.D.C. … Scott J.D. (EMBO J. 1998) 2 3 64

Products for AKAP7 Gene

Sources for AKAP7 Gene

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