Human Gene AKAP13 (ENST00000394518.7_9) from GENCODE V47lift37
  Description: A-kinase anchoring protein 13, transcript variant 2 (from RefSeq NM_007200.5)
Gencode Transcript: ENST00000394518.7_9
Gencode Gene: ENSG00000170776.22_15
Transcript (Including UTRs)
   Position: hg19 chr15:85,923,834-86,292,586 Size: 368,753 Total Exon Count: 37 Strand: +
Coding Region
   Position: hg19 chr15:86,028,952-86,287,908 Size: 258,957 Coding Exon Count: 36 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:85,923,834-86,292,586)mRNA (may differ from genome)Protein (2813 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AKP13_HUMAN
DESCRIPTION: RecName: Full=A-kinase anchor protein 13; Short=AKAP-13; AltName: Full=AKAP-Lbc; AltName: Full=Breast cancer nuclear receptor-binding auxiliary protein; AltName: Full=Guanine nucleotide exchange factor Lbc; AltName: Full=Human thyroid-anchoring protein 31; AltName: Full=Lymphoid blast crisis oncogene; Short=LBC oncogene; AltName: Full=Non-oncogenic Rho GTPase-specific GTP exchange factor; AltName: Full=Protein kinase A-anchoring protein 13; Short=PRKA13; AltName: Full=p47;
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.
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.
INTERACTION: P03372:ESR1; NbExp=3; IntAct=EBI-1373806, EBI-78473; P21980:TGM2; NbExp=4; IntAct=EBI-1373806, EBI-727668;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Membrane.
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.
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.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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 -96.20207-0.465 Picture PostScript Text
3' UTR -1564.904678-0.335 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
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
PF10522 - RII binding domain
PF17838 - PH domain

SCOP Domains:
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like
48403 - Ankyrin repeat
57889 - Cysteine-rich domain
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DRN - NMR 2LG1 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q12802
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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 DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004691 cAMP-dependent protein kinase activity
GO:0004871 signal transducer activity
GO:0005078 MAP-kinase scaffold activity
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0017048 Rho GTPase binding
GO:0032947 protein complex scaffold
GO:0046872 metal ion binding
GO:0051018 protein kinase A binding

Biological Process:
GO:0006468 protein phosphorylation
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007507 heart development
GO:0010611 regulation of cardiac muscle hypertrophy
GO:0035023 regulation of Rho protein signal transduction
GO:0035025 positive regulation of Rho protein signal transduction
GO:0035556 intracellular signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043406 positive regulation of MAP kinase activity
GO:0045859 regulation of protein kinase activity
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051168 nuclear export
GO:0055007 cardiac muscle cell differentiation
GO:0060297 regulation of sarcomere organization
GO:0060348 bone development
GO:0071875 adrenergic receptor signaling pathway
GO:0086023 adrenergic receptor signaling pathway involved in heart process
GO:1900169 regulation of glucocorticoid mediated signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005884 actin filament
GO:0005938 cell cortex
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0048471 perinuclear region of cytoplasm
GO:0030864 cortical actin cytoskeleton


-  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.
MP395094 - Sequence 192 from Patent EP3565903.
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.
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

Reactome (by CSHL, EBI, and GO)

Protein Q12802 (Reactome details) participates in the following event(s):

R-HSA-194913 GEFs activate Rho GTPase:GDP
R-HSA-419166 GEFs activate RhoA,B,C
R-HSA-205039 p75NTR indirectly activates RAC and Cdc42 via a guanyl-nucleotide exchange factor
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-193648 NRAGE signals death through JNK
R-HSA-194315 Signaling by Rho GTPases
R-HSA-388396 GPCR downstream signalling
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-73887 Death Receptor Signalling

-  Other Names for This Gene
  Alternate Gene Symbols: AKP13_HUMAN, BRX , ENST00000394518.1, ENST00000394518.2, ENST00000394518.3, ENST00000394518.4, ENST00000394518.5, ENST00000394518.6, HT31 , LBC, NM_007200, Q12802, Q14572, Q59FP6, Q86W90, Q8WXQ6, Q96JP6, Q96P79, Q9Y5T0, Q9Y5T6, uc318wrx.1, uc318wrx.2
UCSC ID: ENST00000394518.7_9
RefSeq Accession: NM_007200.5
Protein: Q12802 (aka AKP13_HUMAN)

-  Gene Model Information
  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.