Human Gene AKAP13 (uc002blw.2) Description and Page Index
  Description: Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.
RefSeq Summary (NM_001270546): 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].
Transcript (Including UTRs)
   Position: hg19 chr15:86,198,648-86,292,589 Size: 93,942 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg19 chr15:86,198,819-86,287,908 Size: 89,090 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:86,198,648-86,292,589)mRNA (may differ from genome)Protein (1278 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMGIOMIMPubMedStanford SOURCE
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: B7ZW05_HUMAN
DESCRIPTION: SubName: Full=AKAP13 protein; Flags: Fragment;
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 1 PH domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): AKAP13
CDC HuGE Published Literature: AKAP13
Positive Disease Associations: Amyotrophic Lateral Sclerosis , Body Mass Index , breast cancer , Myocardial Infarction , Parkinson Disease , Potassium , smoking cessation
Related Studies:
  1. Amyotrophic Lateral Sclerosis
    Simon Cronin et al. Human molecular genetics 2008, A genome-wide association study of sporadic ALS in a homogenous Irish population., Human molecular genetics. [PubMed 18057069]
  2. Amyotrophic Lateral Sclerosis
    Simon Cronin et al. Human molecular genetics 2008, A genome-wide association study of sporadic ALS in a homogenous Irish population., Human molecular genetics. [PubMed 18057069]
  3. Body Mass Index
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: AKAP13
Diseases sorted by gene-association score: tick-borne relapsing fever (11), keratinizing squamous cell carcinoma (5), relapsing fever (5), breast cancer (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 26.28 RPKM in Uterus
Total median expression: 471.54 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -46.50171-0.272 Picture PostScript Text
3' UTR -1642.214681-0.351 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
IPR000219 - DH-domain
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR002219 - Prot_Kinase_C-like_PE/DAG-bd
IPR015721 - RhoGEF-like

Pfam Domains:
PF00169 - PH domain
PF00621 - RhoGEF domain

SCOP Domains:
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like
57889 - Cysteine-rich domain

ModBase Predicted Comparative 3D Structure on B7ZW05
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 orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004691 cAMP-dependent protein kinase activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity

Biological Process:
GO:0006468 protein phosphorylation
GO:0035023 regulation of Rho protein signal transduction
GO:0035556 intracellular signal transduction

Cellular Component:
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  AB055890 - Homo sapiens c-lbc mRNA for guanine nucleotide exchange factor Lbc, complete cds.
AK125331 - Homo sapiens cDNA FLJ43341 fis, clone NT2RI3007757, highly similar to Homo sapiens breast cancer nuclear receptor-binding auxiliary protein (BRX).
JA482237 - Sequence 220 from Patent WO2011072091.
JA482238 - Sequence 221 from Patent WO2011072091.
JE980529 - Sequence 220 from Patent EP2862929.
JE980530 - Sequence 221 from Patent EP2862929.
AF406992 - Homo sapiens A-kinase anchoring protein mRNA, complete cds.
BC172356 - Synthetic construct Homo sapiens clone IMAGE:100069050, MGC:199061 A kinase (PRKA) anchor protein 13 (AKAP13) mRNA, encodes complete protein.
AF387101 - Homo sapiens protein kinase A anchoring protein Ht31 mRNA, complete cds.
AK309805 - Homo sapiens cDNA, FLJ99846.
AF126008 - Homo sapiens breast cancer nuclear receptor-binding auxiliary protein (BRX) mRNA, complete cds.
AB209414 - Homo sapiens mRNA for A-kinase anchor protein 13 isoform 2 variant protein.
BC063592 - Homo sapiens A kinase (PRKA) anchor protein 13, mRNA (cDNA clone IMAGE:4524064).
AF127481 - Homo sapiens non-ocogenic Rho GTPase-specific GTP exchange factor (proto-LBC) mRNA, complete cds.
JA482239 - Sequence 222 from Patent WO2011072091.
JE980531 - Sequence 222 from Patent EP2862929.
BC171798 - Homo sapiens A kinase (PRKA) anchor protein 13, mRNA (cDNA clone IMAGE:9054452), partial cds.
BC140862 - Homo sapiens A kinase (PRKA) anchor protein 13, mRNA (cDNA clone IMAGE:9021730), partial cds.
BC040109 - Homo sapiens A kinase (PRKA) anchor protein 13, mRNA (cDNA clone IMAGE:5518468), with apparent retained intron.
BC009213 - Homo sapiens A kinase (PRKA) anchor protein 13, mRNA (cDNA clone IMAGE:3687865).
M90360 - Human type II cAMP-dependent protein kinase (Ht31) mRNA, complete cds.
BC000269 - Homo sapiens A kinase (PRKA) anchor protein 13, mRNA (cDNA clone IMAGE:3357869), partial cds.
AK026186 - Homo sapiens cDNA: FLJ22533 fis, clone HRC13008, highly similar to HUMHT31A Human type II cAMP-dependent protein kinase (Ht31) mRNA.
AK307618 - Homo sapiens cDNA, FLJ97566.
AK315885 - Homo sapiens cDNA, FLJ79534 partial cds, highly similar to Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13).
AF086293 - Homo sapiens full length insert cDNA clone ZD49D04.
BC089394 - Homo sapiens A kinase (PRKA) anchor protein 13, mRNA (cDNA clone IMAGE:3100926).
AL133427 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 261172.
JD095869 - Sequence 76893 from Patent EP1572962.
BC017368 - Homo sapiens cDNA clone IMAGE:3509224, containing frame-shift errors.
U03634 - Human P47 LBC oncogene mRNA, complete cds.
AK022014 - Homo sapiens cDNA FLJ11952 fis, clone HEMBB1000831.
JD392334 - Sequence 373358 from Patent EP1572962.
JD555629 - Sequence 536653 from Patent EP1572962.
JD533042 - Sequence 514066 from Patent EP1572962.
JD271718 - Sequence 252742 from Patent EP1572962.
JD088585 - Sequence 69609 from Patent EP1572962.
JD548958 - Sequence 529982 from Patent EP1572962.
AL133426 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 146397.
JD215207 - Sequence 196231 from Patent EP1572962.
JD045476 - Sequence 26500 from Patent EP1572962.
JD125184 - Sequence 106208 from Patent EP1572962.
JD303700 - Sequence 284724 from Patent EP1572962.
JD378904 - Sequence 359928 from Patent EP1572962.
JD243024 - Sequence 224048 from Patent EP1572962.
JD304642 - Sequence 285666 from Patent EP1572962.
JD300706 - Sequence 281730 from Patent EP1572962.
JD248027 - Sequence 229051 from Patent EP1572962.
JD209222 - Sequence 190246 from Patent EP1572962.
JD370580 - Sequence 351604 from Patent EP1572962.
JD431954 - Sequence 412978 from Patent EP1572962.
JD375716 - Sequence 356740 from Patent EP1572962.
JD205054 - Sequence 186078 from Patent EP1572962.
JD537090 - Sequence 518114 from Patent EP1572962.
JD299888 - Sequence 280912 from Patent EP1572962.
DQ586370 - Homo sapiens piRNA piR-53482, complete sequence.
JD391971 - Sequence 372995 from Patent EP1572962.
AK091210 - Homo sapiens cDNA FLJ33891 fis, clone CTONG2007500.
JD331705 - Sequence 312729 from Patent EP1572962.
JD127027 - Sequence 108051 from Patent EP1572962.
JD038961 - Sequence 19985 from Patent EP1572962.
JD056593 - Sequence 37617 from Patent EP1572962.
JD540142 - Sequence 521166 from Patent EP1572962.
JD204563 - Sequence 185587 from Patent EP1572962.
JD359744 - Sequence 340768 from Patent EP1572962.
JD265602 - Sequence 246626 from Patent EP1572962.
JD555710 - Sequence 536734 from Patent EP1572962.
JD526997 - Sequence 508021 from Patent EP1572962.
JD185662 - Sequence 166686 from Patent EP1572962.
JD224723 - Sequence 205747 from Patent EP1572962.
JD089894 - Sequence 70918 from Patent EP1572962.
JD162721 - Sequence 143745 from Patent EP1572962.
DQ594074 - Homo sapiens piRNA piR-60186, complete sequence.
JD056484 - Sequence 37508 from Patent EP1572962.
JD312596 - Sequence 293620 from Patent EP1572962.
JD382236 - Sequence 363260 from Patent EP1572962.
JD314970 - Sequence 295994 from Patent EP1572962.
JD085593 - Sequence 66617 from Patent EP1572962.
JD171256 - Sequence 152280 from Patent EP1572962.
JD521331 - Sequence 502355 from Patent EP1572962.
AL133430 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 233360.
JD255899 - Sequence 236923 from Patent EP1572962.
JD479815 - Sequence 460839 from Patent EP1572962.
JD081508 - Sequence 62532 from Patent EP1572962.
JD141484 - Sequence 122508 from Patent EP1572962.
JD288908 - Sequence 269932 from Patent EP1572962.
AL133429 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 50374.
JD100515 - Sequence 81539 from Patent EP1572962.
JD304773 - Sequence 285797 from Patent EP1572962.
JD423312 - Sequence 404336 from Patent EP1572962.
JD143655 - Sequence 124679 from Patent EP1572962.
JD313716 - Sequence 294740 from Patent EP1572962.
JD095437 - Sequence 76461 from Patent EP1572962.
JD544393 - Sequence 525417 from Patent EP1572962.
JD235799 - Sequence 216823 from Patent EP1572962.
JD147356 - Sequence 128380 from Patent EP1572962.
JD433557 - Sequence 414581 from Patent EP1572962.
BC019662 - Homo sapiens A kinase (PRKA) anchor protein 13, mRNA (cDNA clone IMAGE:4517740), partial cds.
JD374109 - Sequence 355133 from Patent EP1572962.
JD387864 - Sequence 368888 from Patent EP1572962.
JD107205 - Sequence 88229 from Patent EP1572962.
JD506816 - Sequence 487840 from Patent EP1572962.
JD495190 - Sequence 476214 from Patent EP1572962.
JD218615 - Sequence 199639 from Patent EP1572962.
JD480705 - Sequence 461729 from Patent EP1572962.
DQ595239 - Homo sapiens piRNA piR-61351, complete sequence.
JD176022 - Sequence 157046 from Patent EP1572962.
JD390190 - Sequence 371214 from Patent EP1572962.
JD043891 - Sequence 24915 from Patent EP1572962.
JD314204 - Sequence 295228 from Patent EP1572962.
JD432071 - Sequence 413095 from Patent EP1572962.
JD075148 - Sequence 56172 from Patent EP1572962.
JD290024 - Sequence 271048 from Patent EP1572962.
JD368010 - Sequence 349034 from Patent EP1572962.
JD484989 - Sequence 466013 from Patent EP1572962.
JD551917 - Sequence 532941 from Patent EP1572962.
JD446180 - Sequence 427204 from Patent EP1572962.
JD113860 - Sequence 94884 from Patent EP1572962.
JD549322 - Sequence 530346 from Patent EP1572962.
JD094866 - Sequence 75890 from Patent EP1572962.
JD162859 - Sequence 143883 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_akap13Pathway - Rho-Selective Guanine Exchange Factor AKAP13 Mediates Stress Fiber Formation

-  Other Names for This Gene
  Alternate Gene Symbols: AB209414, B7ZW05, B7ZW05_HUMAN, NM_001270546, NP_001257475, uc002blw.1
UCSC ID: uc002blw.2
RefSeq Accession: NM_001270546
Protein: B7ZW05

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AB209414.1
exon count: 26CDS single in 3' UTR: no RNA size: 5410
ORF size: 3837CDS single in intron: no Alignment % ID: 99.85
txCdsPredict score: 7804.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.