dimanche 23 octobre 2011

Mutated genes in cancer (25) – AKT1


Databases entries :

● Entrez (http://www.ncbi.nlm.nih.gov/sites/gquery):  207 or AKT1
● Ensembl (http://www.ensembl.org/index.html): ENSG00000142208
● UniProt (http://www.uniprot.org/): P31749
● OMIM (http://www.ncbi.nlm.nih.gov/omim):  164730
● GeneCards (http://www.genecards.org/):  AKT1
● HGNC (http://www.genenames.org/):  391 or AKT1
● Enzyme Number (IUBMB): EC

Gene locus:


Protein name:

RAC-alpha serine/threonine-protein kinase

Protein Size:

479 amino acids; about 55 kDa


Akt1 plays a key role in regulating cell survival, insulin signaling, angiogenesis… and, in some cases, tumor formation. Activation of the PI3K pathway may result in the recruitment of Akt1 to the plasma membrane via the pleckstrin homology domain (PH) of the kinase. Akt1 fully activated by phosphorylation at Ser308 (by PDK1) and Thr478 (by mTOR and DNA-PK) can itself phosphorylate a wide range of substrates including transcription factors, kinases and other proteins with important signaling.

Cancer-related alterations:

Akt1 mutations have been associated with breast, colorectal and ovarian cancer. Mutations have also been found in urinary tract, thyroid, endometrial and prostate cancers.
More than 99% of somatic mutations are substitutions. Most mutations are found in the first 50 amino acids (PH domain), with a mutation “hotspot” at amino acid 17.


The Akt kinases: isoform specificity in metabolism and cancer. Gonzalez E, McGraw TE. Cell Cycle. 2009 Aug 15;8(16):2502-8.

Phosphatidylinositol 4,5-bisphosphate-specific AKT1 is oncogenic. Dannemann N, Hart JR, Ueno L, Vogt PK. Int J Cancer. 2010 Jul 1;127(1):239-44.

AKT1/BRCA1 in the control of homologous recombination and genetic stability: the missing link between hereditary and sporadic breast cancers. Guirouilh-Barbat JK, Wilhelm T, Lopez BS. Oncotarget. 2010 Dec;1(8):691-9.

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