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AKAP13 Gene

protein-coding   GIFtS: 68
GCID: GC15P085925

A Kinase (PRKA) Anchor Protein 13

(Previous name: lymphoid blast crisis oncogene)
(Previous symbol: LBC)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
A Kinase (PRKA) Anchor Protein 131 2     LBC Oncogene2 3
LBC1 2 3 5     p472 3
Lymphoid Blast Crisis Oncogene1 2 3     HT313 5
BRX2 3 5     ARHGEF132
Breast Cancer Nuclear Receptor-Binding Auxiliary Protein2 3     HA-32
Guanine Nucleotide Exchange Factor Lbc2 3     Ht312
Human Thyroid-Anchoring Protein 312 3     PROTO-LB2
Non-Oncogenic Rho GTPase-Specific GTP Exchange Factor2 3     PROTO-LBC2
Protein Kinase A-Anchoring Protein 132 3     A-Kinase Anchor Protein 132
AKAP-132 3     A-Kinase Anchoring Protein2
AKAP-Lbc2 3     c-lbc2
PRKA132 3     

External Ids:    HGNC: 3711   Entrez Gene: 112142   Ensembl: ENSG000001707767   OMIM: 6046865   UniProtKB: Q128023   

Export aliases for AKAP13 gene to outside databases

Previous GC identifers: GC15M082290 GC15P079144 GC15P083511 GC15P083653 GC15P083724 GC15P083578 GC15P061986 GC15P085777


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AKAP13 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. Alternative splicing of this gene results in
multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and
pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the
Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active
form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as
scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and,
in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. (provided by RefSeq, Jul
2012)

GeneCards Summary for AKAP13 Gene:
AKAP13 (A kinase (PRKA) anchor protein 13) is a protein-coding gene. Diseases associated with AKAP13 include relapsing fever, and breast cancer. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF2.

UniProtKB/Swiss-Prot: AKP13_HUMAN, Q12802
Function: Anchors cAMP-dependent protein kinase (PKA) and acts as an adapter protein to selectively couple G
alpha-13 and Rho. Augments gene activation by the estrogen receptor in an element-specific and ligand-dependent
manner. Activates estrogen receptor beta by a p38 MAPK-dependent pathway. Stimulates exchange activity on Rho
proteins in vitro, but not on CDC42, Ras or Rac and may bind calcium ions

Gene Wiki entry for AKAP13 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AKAP13 gene promoter:
         Nkx3-1   AML1a   Lmo2   Nkx3-1 v1   CUTL1   Meis-1b   S8   Nkx6-1   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAKAP13 promoter sequence
   Search Chromatin IP Primers for AKAP13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AKAP13


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q24-q25   Ensembl cytogenetic band:  15q25.3   HGNC cytogenetic band: 15q24-q25

AKAP13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKAP13 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P085925:  view genomic region     (about GC identifiers)

Start:
85,923,802 bp from pter      End:
86,292,586 bp from pter
Size:
368,785 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AKP13_HUMAN, Q12802 (See protein sequence)
Recommended Name: A-kinase anchor protein 13  
Size: 2813 amino acids; 307550 Da
Subunit: Binds cAMP-dependent protein kinase (PKA) and to the RII-alpha regulatory subunit of PKA. Interacts with
ESR1, ESR2, THRA, PPARA, RHOA and NME2
Sequence caution: Sequence=AAC50065.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAC50065.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAD21311.1;
Type=Frameshift; Positions=2614, 2647; Sequence=AAD40799.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=AAD40799.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Sequence=AAL40923.1; Type=Frameshift; Positions=2614, 2647;
2 PDB 3D structures from and Proteopedia for AKAP13:
2DRN (3D)        2LG1 (3D)    
Secondary accessions: Q14572 Q59FP6 Q86W90 Q8WXQ6 Q96JP6 Q96P79 Q9Y5T0 Q9Y5T6
Alternative splicing: 4 isoforms:  Q12802-1   Q12802-2   Q12802-4   Q12802-5   

Explore the universe of human proteins at neXtProt for AKAP13: NX_Q12802

Explore proteomics data for AKAP13 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys186
  • Modification sites at PhosphoSitePlus

  • See AKAP13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001257475.1  NP_006729.4  NP_009131.2  

    ENSEMBL proteins: 
     ENSP00000453768   ENSP00000453634   ENSP00000378026   ENSP00000354718   ENSP00000453620  
     ENSP00000452622   ENSP00000452698   ENSP00000453205   ENSP00000378018  
    Reactome Protein details: Q12802

    AKAP13 Human Recombinant Protein Products:

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    Novus Biologicals AKAP13 Protein
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    Abcam antibodies for AKAP13
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    LSBio Antibodies in human, mouse, rat for AKAP13

    AKAP13 Assay Products:

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    Cloud-Clone Corp. ELISAs for AKAP13
    Cloud-Clone Corp. CLIAs for AKAP13


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing
    ARHGEF: Rho guanine nucleotide exchange factors
    AKAP: A-kinase anchor proteins

    5 InterPro protein domains:
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR028852 AKAP13
     IPR002219 Prot_Kinase_C-like_PE/DAG-bd

    Graphical View of Domain Structure for InterPro Entry Q12802

    ProtoNet protein and cluster: Q12802

    2 Blocks protein domains:
    IPB000219 DH domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: AKP13_HUMAN, Q12802
    Domain: Both the DH and PH domains are required for transforming activity
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger


    AKAP13 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AKP13_HUMAN, Q12802
    Function: Anchors cAMP-dependent protein kinase (PKA) and acts as an adapter protein to selectively couple G
    alpha-13 and Rho. Augments gene activation by the estrogen receptor in an element-specific and ligand-dependent
    manner. Activates estrogen receptor beta by a p38 MAPK-dependent pathway. Stimulates exchange activity on Rho
    proteins in vitro, but not on CDC42, Ras or Rac and may bind calcium ions

         Genatlas biochemistry entry for AKAP13:
    A kinase (PRKA regulatory subunit RII) anchor protein 13

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004691cAMP-dependent protein kinase activity NAS1618839
    GO:0004871signal transducer activity TAS8290273
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding IPI16301118
    GO:0016301kinase activity ----
         
    AKAP13 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for AKAP13:
     Decreased 12E8 tau but not tot  Increased apoptosis 

         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Akap13):
     cardiovascular system  craniofacial  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  muscle  nervous system 
     reproductive system 

    AKAP13 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AKAP13
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AKAP13

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AKAP13
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AKAP13

    miRNA
    Products:
        
    miRTarBase miRNAs that target AKAP13:
    hsa-mir-16-5p (MIRT051060), hsa-mir-484 (MIRT042150), hsa-mir-423-5p (MIRT038038), hsa-mir-193b-3p (MIRT041492), hsa-mir-335-5p (MIRT017303), hsa-mir-149-5p (MIRT045632)

    Block miRNA regulation of human, mouse, rat AKAP13 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AKAP13 (see all 74):
    hsa-miR-607 hsa-miR-106a hsa-miR-219-5p hsa-miR-519a hsa-miR-629 hsa-miR-93 hsa-miR-376a* hsa-miR-761
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AKAP13

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for AKAP13

    Clone
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    OriGene ORF clones in mouse, rat for AKAP13
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    GenScript: all cDNA clones in your preferred vector (see all 3): AKAP13 (NM_144767)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKAP13


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AKP13_HUMAN, Q12802: Cytoplasm. Nucleus. Membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    golgi apparatus2
    plasma membrane2
    cytoskeleton1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0016020membrane IEA--
    GO:0048471perinuclear region of cytoplasm IEA--

    AKAP13 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AKAP13 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    NRAGE signals death through JNK0.71
    Cell death signalling via NRAGE, NRIF and NADE0.74
    G alpha (12/13) signalling events0.44
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    4Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    5Signaling by FGFR
    Signalling by NGF0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AKAP13
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    3 GeneGo (Thomson Reuters) Pathways for AKAP13
        Signal transduction PKA signaling
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    G-protein signaling G-Protein alpha-12 signaling pathway

    2 BioSystems Pathways for AKAP13
        G Protein Signaling Pathways
    Regulation of RhoA activity

    3 Reactome Pathways for AKAP13
        G alpha (12/13) signalling events
    NRAGE signals death through JNK
    Rho GTPase cycle



    AKAP13 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AKAP13
    Interactions:

        GeneGlobe Interaction Network for AKAP13

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for AKAP13 (Q128021, 2, 3 ENSP000003547184) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-8006913 I2D: score=5 STRING: ENSP00000300161
    RXRBP287023, ENSP000003638124I2D: score=2 STRING: ENSP00000363812
    ENSG00000206289P287023I2D: score=2 
    ENSG00000227322P287023I2D: score=2 
    ENSG00000228333P287023I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation NAS1618839
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0010611regulation of cardiac muscle hypertrophy IEA--
    GO:0035023regulation of Rho protein signal transduction ----
    GO:0035556intracellular signal transduction ----

    AKAP13 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AKAP13 (AKP13)

    Selected HMDB Compounds for AKAP13 (see all 845)    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----

    Selected Novoseek inferred chemical compound relationships for AKAP13 gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclic amp 53.3 5 16540556 (1), 17081989 (1), 16460837 (1), 10074940 (1)
    forskolin 36.5 3 10887192 (1), 12777250 (1)
    threonine 27.6 3 17200117 (1), 11823486 (1), 16700649 (1)
    calcium 23.8 11 9620705 (2), 11258666 (1), 15652351 (1), 9545239 (1) (see all 6)
    serine 20.6 3 17200117 (1), 11823486 (1), 16700649 (1)
    ryanodine 18.2 3 12709444 (1), 11258666 (1), 15652351 (1)
    potassium 15.8 5 15710486 (1), 11287423 (1), 16647783 (1), 16002409 (1) (see all 5)
    isoproterenol 14 1 11731570 (1)
    gdp 13.6 4 8910315 (3), 11696353 (1)
    gtp 7.02 1 11696353 (1)



    AKAP13 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AKAP13 gene (4 alternative transcripts): 
    NM_001270546.1  NM_006738.5  NM_007200.4  NM_144767.3  

    Unigene Cluster for AKAP13:

    A kinase (PRKA) anchor protein 13
    Hs.459211  [show with all ESTs]
    Unigene Representative Sequence: NM_006738
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000560571 ENST00000559362(uc002blt.1) ENST00000560302(uc002bls.3)
    ENST00000394518(uc002blu.1 uc002blv.1 uc010bne.1 uc002blw.1)
    ENST00000361243 ENST00000560256 ENST00000558166 ENST00000558811 ENST00000561337
    ENST00000560340 ENST00000560676(uc010bnf.1) ENST00000560579 ENST00000559486
    ENST00000560957 ENST00000558092 ENST00000557852 ENST00000560482 ENST00000559278

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    Selected qRT-PCR Assays for microRNAs that regulate AKAP13 (see all 74):
    hsa-miR-607 hsa-miR-106a hsa-miR-219-5p hsa-miR-519a hsa-miR-629 hsa-miR-93 hsa-miR-376a* hsa-miR-761
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    GenScript: all cDNA clones in your preferred vector (see all 3): AKAP13 (NM_144767)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AKAP13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKAP13
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      QuantiFast Probe-based Assays in human, mouse, rat AKAP13

    Additional mRNA sequence: 

    AB209414.1 AF086293.1 AF126008.1 AF387101.1 AF406992.1 AK026186.1 AK091210.1 AK125331.1 
    AK130214.1 AK307618.1 AK309805.1 AK315885.1 AL133426.1 AL133429.1 AL133430.1 BC000269.1 
    BC009213.2 BC017368.2 BC019662.1 BC040109.1 BC050312.1 BC063592.1 BC089394.1 BC140862.1 
    BC171798.1 M90360.1 

    Selected DOTS entries (see all 31):

    DT.95104508  DT.95291719  DT.100795176  DT.40214988  DT.95298158  DT.307348  DT.86857503  DT.100686517 
    DT.100713955  DT.121018027  DT.121018104  DT.99941659  DT.75170979  DT.97770739  DT.92453875  DT.92453880 
    DT.100032362  DT.100646339  DT.121018025  DT.40263503  DT.70105049  DT.91803824  DT.91937402  DT.91986974 

    Selected AceView cDNA sequences (see all 60):

    BQ225311 T40618 BM969106 BM673486 AW440054 CA424347 AI679155 AI864082 
    CA416389 AA835490 BM129627 R82598 AI885889 BM129808 AA704565 T50096 
    BM707378 N41455 BQ021860 N77147 AW028407 AW000863 N59339 R12646 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AKAP13 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:                                -                                                           -     -                                                         
    SP2:                                                                                                  -                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22a · 22b ^ 23
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for AKAP13

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AKAP13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGATGCGCAG
    AKAP13 Expression
    About this image


    AKAP13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Lung (Respiratory System)
     
     Colon (Gastrointestinal Tract)
     
     Gall Bladder (Hepatobiliary System)
    AKAP13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AKAP13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.459211

    UniProtKB/Swiss-Prot: AKP13_HUMAN, Q12802
    Tissue specificity: Expressed as a 5.3 kb transcript in hematopoietic cells, skeletal muscle, lung, heart,
    estrogen-responsive reproductive tissues, including breast ductal epithelium. Also found in testis and breast
    cancer cell lines. Predominantly expressed as a 10 kb transcript in the heart and at lower levels in the lung,
    placenta, kidney, pancreas, skeletal muscle and liver. Transcripts of between 6-9 kb are also expressed in
    myeloid and lymphoid lineages, a variety of epithelial tissues, and in skeletal muscle

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for AKAP13 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akap131 , 5 A kinase (PRKA) anchor protein 131, 5 79.71(n)1
    74.47(a)1
      7 (43.76 cM)5
    755471  NM_029332.11  NP_083608.11 
     754555345 
    chicken
    (Gallus gallus)
    Aves AKAP131 A kinase (PRKA) anchor protein 13 70.26(n)
    68.42(a)
      415502  XM_004943859.1  XP_004943916.1 
    lizard
    (Anolis carolinensis)
    Reptilia AKAP136
    A kinase (PRKA) anchor protein 13
    66(a)
    1 ↔ 1
    AAWZ02038347(1608-10832)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia akap131 A kinase (PRKA) anchor protein 13 63.66(n)
    61.49(a)
      100485001  XM_004912654.1  XP_004912711.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AKAP13 (1 of 2)6
    AKAP13 (2 of 2)6
    A kinase (PRKA) anchor protein 13
    59(a)
    59(a)
    1 ↔ many
    1 ↔ many
    7(15927546-15948243) ENSDARG00000023868
    7(15704144-15736629) ENSDARG00000079358
    fruit fly
    (Drosophila melanogaster)
    Insecta CG101883 Rho guanyl-nucleotide exchange factor 30(a)     --


    ENSEMBL Gene Tree for AKAP13 (if available)
    TreeFam Gene Tree for AKAP13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AKAP13 gene
    ARHGEF22  ARHGEF32  ARHGEF112  ARHGEF12  ENSG000002688612  NET12  ARHGEF122  ARHGEF182  
    ARHGEF282  
    4 SIMAP similar genes for AKAP13 using alignment to 8 protein entries:     AKP13_HUMAN (see all proteins):
    ARHGEF28    ARHGEF18    ARHGEF2    ARHGEF1

    AKAP13 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AKAP13 (see all 8671)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1154061181,2
    C,F--61984403(+) AATTTT/CTGTAT 2 -- us2k11Minor allele frequency- C:0.01WA 118
    rs680332411,2
    C--62347253(+) AACAA-/AC/C  
            
    AAAAA
    3 -- int11NA 2
    rs1931862601,2
    C--85921868(+) GATGGC/GGTTTC 2 -- us2k10--------
    rs124378851,2
    C,H--85921869(+) ATGGCG/ATTTCA 2 -- us2k15Minor allele frequency- A:0.21NA WA EA 362
    rs48430551,2
    C,F,A--85921895(+) GGTCTC/TGAACT 2 -- us2k17Minor allele frequency- T:0.24NA CSA WA 247
    rs48430561,2
    C,F,A--85921907(+) CTGGGC/GTCGAG 2 -- us2k13Minor allele frequency- G:0.40NA 124
    rs1506918141,2
    --85921915(+) GAGCAA/CTCTGC 2 -- us2k10--------
    rs1833280011,2
    --85921965(+) GCCACC/TGCGCC 2 -- us2k10--------
    rs124403401,2
    C,H--85921967(+) CACCGC/TGCCAG 2 -- us2k14Minor allele frequency- T:0.15NA EA 244
    rs1880693131,2
    --85922076(+) AGAACG/TGGGCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for AKAP13 (85923802 - 86173802 bp, first 250kb of AKAP13)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AKAP13 (see all 33):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749971CNV Deletion23290073
    esv2749972CNV Deletion23290073
    esv2599314CNV Deletion19546169
    esv2749976CNV Deletion23290073
    esv3421CNV Deletion18987735
    esv4400CNV Deletion18987735
    dgv465e199CNV Deletion23128226
    esv2656709CNV Deletion23128226
    esv2749975CNV Deletion23290073
    esv2749973CNV Deletion23290073

    Human Gene Mutation Database (HGMD): AKAP13
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AKAP13
    DNA2.0 Custom Variant and Variant Library Synthesis for AKAP13

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604686    OMIM disorders: --

    Selected diseases for AKAP13 (see all 22):    
    About MalaCards
    relapsing fever    breast cancer    thyroiditis    long qt syndrome
    familial breast cancer    keratoconus    mantle cell lymphoma    cystic fibrosis
    papillary thyroid carcinoma    spasticity    pulmonary fibrosis    endometriosis
    astrocytoma    cervical cancer    prostate cancer    prostatitis
    parkinson's disease    cervicitis    colorectal cancer    alzheimer's disease

    2 diseases from the University of Copenhagen DISEASES database for AKAP13:
    Relapsing fever     Cervical cancer

    AKAP13 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for AKAP13 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiac hypertrophy 21.6 1 19696020 (1)
    cystic fibrosis 4.64 1 10600928 (1)
    cancer 2.68 6 16234258 (2), 15059896 (1), 19696020 (1)
    tumors 1.5 1 17577780 (1)
    astrocytoma 0 1 11278452 (1)
    colon cancer 0 1 15059896 (1)
    breast cancer 0 3 16412732 (2), 16234258 (1)
    prostate cancer 0 3 16301118 (2)

    Genetic Association Database (GAD): AKAP13
    Human Genome Epidemiology (HuGE) Navigator: AKAP13 (9 documents)

    Export disorders for AKAP13 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AKAP13 gene, integrated from 10 sources (see all 246):
    (articles sorted by number of sources associating them with AKAP13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of Brx, a novel Dbl family member that modulates estrogen receptor action. (PubMed id 9627117)1, 2, 3, 9 Rubino D.... Segars J. (Oncogene 1998)
    2. Lbc proto-oncogene product binds to and could be negatively regulated by metastasis suppressor nm23-H2. (PubMed id 15249197)1, 2, 9 Iwashita S.... Miyamoto M. (Biochem. Biophys. Res. Commun. 2004)
    3. Ht31: the first protein kinase A anchoring protein to integrate protein kinase A and Rho signaling. (PubMed id 11696353)1, 2, 9 Klussmann E.... Rosenthal W. (FEBS Lett. 2001)
    4. Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancer. (PubMed id 16234258)1, 4, 9 Wirtenberger M....Burwinkel B. (Carcinogenesis 2006)
    5. Novel human oncogene lbc detected by transfection with distinct homology regions to signal transduction products. (PubMed id 8290273)1, 2, 9 Toksoz D. and Williams D.A. (Oncogene 1994)
    6. AKAP-Lbc anchors protein kinase A and nucleates Galpha 12-selective Rho-mediated stress fiber formation. (PubMed id 11546812)1, 2, 9 Diviani D.... Scott J.D. (J. Biol. Chem. 2001)
    7. Degree of predicted minor histocompatibility antigen mismatch correlates with poorer clinical outcomes in nonmyeloablative allogeneic hematopoietic cell transplantation. (PubMed id 20353833)1, 4 Larsen M.E....Vindelov L. (Biol. Blood Marrow Transplant. 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1, 4 Takefuji M....Kaibuchi K. (J. Hum. Genet. 2010)
    10. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11214 HGNC: 371 AceView: AKAP13.1 Ensembl:ENSG00000170776 euGenes: HUgn11214
    ECgene: AKAP13 H-InvDB: AKAP13

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AKAP13 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AKAP13 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AKAP13 gene:
    Search GeneIP for patents involving AKAP13

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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