| Entrez Gene ID |
11214 (NCBI Gene) |
| Official Gene Symbol |
AKAP13 (GeneCards) |
| Number of variants in AKAP13 in this database |
2 (view all the variants) |
| Full name |
A-kinase anchoring protein 13 |
| Band |
15q25.3 |
| Other IDs |
Vega:
OTTHUMG00000172205
OMIM:
604686
HGNC:
HGNC:371
Ensembl:
ENSG00000170776
|
| Other names |
BRX,
LBC,
p47,
HA-3,
Ht31,
c-lbc,
PRKA13,
AKAP-13,
AKAP-Lbc,
ARHGEF13,
PROTO-LB,
PROTO-LBC
|
| Summary |
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] |