Human Gene AKAP13 (uc002blt.2) Description and Page Index
  Description: Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.
RefSeq Summary (NM_007200): 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 chr15:85,923,847-86,228,104 Size: 304,258 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr15:86,028,952-86,228,104 Size: 199,153 Coding Exon Count: 14 

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 (chr15:85,923,847-86,228,104)mRNA (may differ from genome)Protein (1745 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: H0YMW2_HUMAN
DESCRIPTION: SubName: Full=A-kinase anchor protein 13; Flags: Fragment;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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 -88.90194-0.458 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
IPR020683 - Ankyrin_rpt-contain_dom

Pfam Domains:
PF10522 - RII binding domain

SCOP Domains:
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on H0YMW2
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004691 cAMP-dependent protein kinase activity

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


-  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).
BC050312 - Homo sapiens A kinase (PRKA) anchor protein 13, mRNA (cDNA clone IMAGE:5263747), complete cds.
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.
KC832804 - Homo sapiens hsa-miR-7706 miRNA, complete sequence.
LP997130 - Sequence 79 from Patent WO2017136662.
JD260974 - Sequence 241998 from Patent EP1572962.
JD117661 - Sequence 98685 from Patent EP1572962.
JD256882 - Sequence 237906 from Patent EP1572962.
MA765591 - JP 2017514519-A/157: Small ncRNAs as biomarkers.
MP073632 - Sequence 79 from Patent WO2018236590.
MP080405 - Sequence 79 from Patent WO2018236589.
KJ902219 - Synthetic construct Homo sapiens clone ccsbBroadEn_11613 AKAP13 gene, encodes complete protein.
CU690638 - Synthetic construct Homo sapiens gateway clone IMAGE:100022700 5' read AKAP13 mRNA.
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.
DQ575618 - Homo sapiens piRNA piR-43730, complete sequence.
AK026186 - Homo sapiens cDNA: FLJ22533 fis, clone HRC13008, highly similar to HUMHT31A Human type II cAMP-dependent protein kinase (Ht31) mRNA.
DQ579019 - Homo sapiens piRNA piR-47131, complete sequence.
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.

-  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: AK125331, H0YMW2, H0YMW2_HUMAN, NM_007200, NP_009131, uc002blt.1
UCSC ID: uc002blt.2
RefSeq Accession: NM_007200
Protein: H0YMW2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK125331.1
exon count: 15CDS single in 3' UTR: no RNA size: 5460
ORF size: 5235CDS single in intron: no Alignment % ID: 99.69
txCdsPredict score: 10400.00frame shift in genome: no % Coverage: 99.43
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no 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.