AKAP13 (A-kinase anchoring protein 13)

2012-12-01  

Identity

HGNC
LOCATION
15q25.3
LOCUSID
ALIAS
AKAP-13,AKAP-Lbc,ARHGEF13,BRX,HA-3,Ht31,LBC,PRKA13,PROTO-LB,PROTO-LBC,c-lbc,p47
FUSION GENES

Other Information

Locus ID:

NCBI: 11214
MIM: 604686
HGNC: 371
Ensembl: ENSG00000170776

Variants:

dbSNP: 11214
ClinVar: 11214
TCGA: ENSG00000170776
COSMIC: AKAP13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170776ENST00000361243Q12802
ENSG00000170776ENST00000394510A8MYJ1
ENSG00000170776ENST00000394518Q12802
ENSG00000170776ENST00000557852A0A087WX73
ENSG00000170776ENST00000558166H0YK18
ENSG00000170776ENST00000558811H0YK84
ENSG00000170776ENST00000559362H0YMW2
ENSG00000170776ENST00000559486H0YLH1
ENSG00000170776ENST00000560256H0YMI5
ENSG00000170776ENST00000560302Q12802
ENSG00000170776ENST00000560340A0A087X047
ENSG00000170776ENST00000560579A0A087WTD7
ENSG00000170776ENST00000560676A0A087WY36
ENSG00000170776ENST00000612418A0A087WYS7

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
p75 NTR receptor-mediated signallingREACTOMER-HSA-193704
Cell death signalling via NRAGE, NRIF and NADEREACTOMER-HSA-204998
NRAGE signals death through JNKREACTOMER-HSA-193648
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (12/13) signalling eventsREACTOMER-HSA-416482

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA449841haloperidolChemicalMultilinkAnnotationassociated27023437

References

Pubmed IDYearTitleCitations
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
211024382010AKAP-Lbc enhances cyclic AMP control of the ERK1/2 cascade.62
207198622010New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.60
152296492004Anchoring of both PKA and 14-3-3 inhibits the Rho-GEF activity of the AKAP-Lbc signaling complex.55
290660902017Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study.34
156918292005Leucine zipper-mediated homo-oligomerization regulates the Rho-GEF activity of AKAP-Lbc.31
126634452003The minor histocompatibility antigen HA-3 arises from differential proteasome-mediated cleavage of the lymphoid blast crisis (Lbc) oncoprotein.25
122709172002Association of Lbc Rho guanine nucleotide exchange factor with alpha-catenin-related protein, alpha-catulin/CTNNAL1, supports serum response factor activation.23
164697332006Rho family Guanine nucleotide exchange factor Brx couples extracellular signals to the glucocorticoid signaling system.23

Citation

Dessen P

AKAP13 (A-kinase anchoring protein 13)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53096/akap13