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Gene Symbol AKT1
Synonyms AKT | CWS6 | PKB | PKB-ALPHA | PRKBA | RAC | RAC-ALPHA
Gene Description AKT1, RAC-alpha serine/threonine-protein kinase, is a ubquitously expressed serine-threonine protein kinase, which regulates a variety of cell functions including, metabolism, growth, angiogenesis, cell proliferation and survival through PI3K signaling in response to extracellular signals (PMID: 23297823, PMID: 26698230). Akt1 mutations are observed in a variety of tumor types (PMID: 23134728), including breast cancer (PMID: 30212483), gastric cancer (PMID: 29714127), salivary carcinoma (PMID: 29682203), and overexpression has been observed in osteosarcoma (PMID: 29762834) and gastric cancer (PMID: 29278885).
NCBI Gene ID Chromosome Map Location Canonical Transcript
207 14 14q32.33 NM_001014432

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function AKT1 act mut indicates that this variant results in a gain of function in the AKT1 protein. However, the specific amino acid change has not been identified.
amp none no effect AKT1 amplification indicates an increased number of copies of the AKT1 gene. However, the mechanism causing the increase is unspecified.
D221N missense no effect - predicted AKT1 D221N lies within the protein kinase domain of the Akt1 protein (UniProt.org). D221N has been identified in sequencing studies (PMID: 22820256, PMID: 25957691), but is not transforming in cell culture and therefore, is predicted to have no effect on the Akt1 protein (PMID: 26701849).
D262G missense unknown AKT1 D262G lies within the protein kinase domain of the Akt1 protein (UniProt.org). D262G has not been characterized in the scientific literature and therefore, its effect on Akt1 protein function is unknown (PubMed, Oct 2019).
D323H missense gain of function AKT1 D323H lies within the protein kinase domain of the Akt1 protein (UniProt.org). D323H results in a gain of function of the Akt1 protein as indicated by increased kinase activity, constitutive downstream signaling, transformation of cultured cells, and tumor growth in xenograft models (PMID: 23134728, PMID: 26701849).
D325A missense gain of function AKT1 D325A lies within the protein kinase domain of the Akt1 protein (UniProt.org). D325A confers a gain of function to the Akt1 protein as demonstrated by increased kinase activity and promotion of survival in cell culture (PMID: 23134728).
D44N missense no effect - predicted AKT1 D44N lies within the PH domain of the Akt1 protein (UniProt.org). D44N has not been biochemically characterized, but does not induce tumor formation in xenograft models and therefore, is predicted to have no effect on the Akt1 protein (PMID: 27147599).
D46H missense no effect - predicted AKT1 D46H lies within the PH domain of the Akt1 protein (UniProt.org). D46H has not been biochemically characterized, but is not transforming in cell culture and therefore, is predicted to have no effect on the Akt1 protein (PMID: 26701849).
D46N missense no effect - predicted AKT1 D46N lies within the PH domain of the Akt1 protein (UniProt.org). D46N has not been biochemically characterized, but is not transforming in cell culture and therefore, is predicted to have no effect on the Akt1 protein (PMID: 26701849).
E17K missense gain of function AKT1 E17K lies within the PH domain of the Akt1 protein (UniProt.org). E17K leads to constitutive activation of Akt1, activates downstream signaling, and is transforming in culture (PMID: 17611497, PMID: 29533785, PMID: 27147599, PMID: 26701849).
E191A missense gain of function AKT1 E191A lies within the protein kinase domain of the Akt1 protein (UniProt.org). E191A confers a gain of function to the Akt1 protein as demonstrated by increased phosphorylation (PMID: 26256536) and cell proliferation (PMID: 23134728).
E267G missense gain of function - predicted AKT1 E267G lies within the protein kinase domain of the Akt1 protein (UniProt.org). E267G has not been biochemically characterized, but induces tumor formation in xenograft models and therefore, is predicted to confer a gain of function to the Akt1 protein (PMID: 27147599).
E278A missense loss of function AKT1 E278A lies within the protein kinase domain of the Akt1 protein (UniProt.org). E278A results in decreased Akt1 kinase activity, reduced phosphorylation of Gsk3beta, and inhibition of cell proliferation in culture (PMID: 23884910).
E278Q missense loss of function - predicted AKT1 E278Q lies within the protein kinase domain of the Akt1 protein (UniProt.org). E278Q results in decreased SUMOylation of Akt1 in culture (PMID: 23884910) and therefore, is predicted to lead to a loss of Akt1 protein function.
E278S missense loss of function - predicted AKT1 E278S lies within the protein kinase domain of the Akt1 protein (UniProt.org). E278S results in decreased SUMOylation of Akt1 in culture (PMID: 23884910) and therefore, is predicted to lead to a loss of Akt1 protein function.
E40K missense gain of function AKT1 E40K lies within the PH domain of the Akt1 protein (UniProt.org). E40K results in increased Akt1 kinase activity and inhibition of apoptosis in cell culture (PMID: 9690513).
E49K missense gain of function AKT1 E49K lies within the PH domain of the Akt1 protein (UniProt.org). E49K results in constitutive activation of Akt1, increased phosphorylation of GSK3-beta, and is transforming in cell culture (PMID: 19802009).
F35L missense loss of function AKT1 F35L lies within the PH domain of the Akt1 protein (UniProt.org). F35L confers a loss of function to the Akt1 protein as demonstrated by decreased Akt1 activity and no effect on cell survival and morphogenesis in cell culture (PMID: 23134728).
F55Y missense gain of function AKT1 F55Y lies within the PH domain of the Akt1 protein (UniProt.org). F55Y confers a gain of function to the Akt1 protein as indicated by increased kinase activity and promotion of survival in cell culture (PMID: 23134728).
G173R missense unknown AKT1 G173R lies within the protein kinase domain of the Akt1 protein (UniProt.org). G173R has been identified in the scientific literature (PMID: 22895070), but has not been biochemically characterized and therefore, its effect on Akt1 protein function is unknown (PubMed, Oct 2019).
I19E missense no effect - predicted AKT1 I19E lies within the PH domain of the Akt1 protein (UniProt.org). I19E has no effect on kinase activity of the Akt1 protein in cell culture (PMID: 23134728) and therefore, is predicted to have no effect on the Akt1 protein.
I19L missense unknown AKT1 I19L lies within the PH domain of the Akt1 protein (UniProt.org). I19L has been identified in the scientific literature (PMID: 27601661), but has not been biochemically characterized and therefore, its effect on Akt1 protein function is unknown (PubMed, Oct 2019).
inact mut unknown loss of function AKT1 inact mut indicates that this variant results in a loss of function of the Akt1 protein. However, the specific amino acid change has not been identified.
K14R missense loss of function AKT1 K14R lies within the PH domain of the Akt1 protein (UniProt.org). K14R results in decreased Akt1 kinase activity and phosphorylation of Gsk3beta in culture (PMID: 23884910).
K168R missense loss of function AKT1 K168R lies within the protein kinase domain of the Akt1 protein (UniProt.org). K168R results in decreased SUMOylation and kinase activity of Akt1 in culture (PMID: 23884910).
K179M missense loss of function AKT1 K179M lies within the protein kinase domain of the Akt1 protein (UniProt.org). K179M results in a loss of function in the Akt1 protein as demonstrated by the lack of kinase activity and the inability to suppress TGF-beta mediated responses (PMID: 7774014, PMID: 9005851, PMID: 16362038).
K179R missense loss of function AKT1 K179R lies within the protein kinase domain of the Akt1 protein (UniProt.org). K179R results in decreased Akt1 kinase activity and phosphorylation of Gsk3beta in culture (PMID: 23884910).
K183R missense loss of function AKT1 K183R lies within the protein kinase domain of the Akt1 protein (UniProt.org). K183R results in decreased SUMOylation and kinase activity of Akt1 in culture (PMID: 23884910).
K189N missense gain of function AKT1 K189N lies within the protein kinase domain of the Akt1 protein (UniProt.org). K189N confers a gain of function to the Akt1 protein as demonstrated by increased kinase activity, constitutive downstream signaling, and transformation in cell culture (PMID: 23134728).
K276A missense loss of function - predicted AKT1 K276A lies within the protein kinase domain of the Akt1 protein (UniProt.org). K276A results in decreased SUMOylation of Akt1 in culture (PMID: 23884910) and therefore, is predicted to lead to a loss of Akt1 protein function.
K276Q missense loss of function - predicted AKT1 K276Q lies within the protein kinase domain of the Akt1 protein (UniProt.org). K276Q results in decreased SUMOylation of Akt1 in culture (PMID: 23884910) and therefore, is predicted to lead to a loss of Akt1 protein function.
K276R missense loss of function AKT1 K276R lies within the protein kinase domain of the Akt1 protein (UniProt.org). K276R results in decreased Akt1 kinase activity, reduced phosphorylation of Gsk3beta, and inhibition of cell proliferation in culture (PMID: 23884910).
L202F missense no effect - predicted AKT1 L202F lies within the protein kinase domain of the Akt1 protein (UniProt.org). L202F is predicted to have no effect on the Akt1 protein as demonstrated by kinase activity comparable to wild-type Akt1 in cell culture (PMID: 23134728).
L321A missense gain of function AKT1 L321A lies within the protein kinase domain of the Akt1 protein (UniProt.org). L321A confers a gain of function to the Akt1 protein as demonstrated by increased kinase activity and promotion of survival in cell culture (PMID: 23134728).
L362R missense no effect - predicted AKT1 L362R lies within the protein kinase domain of the Akt1 protein (UniProt.org). L362R is predicted to have no effect on the Akt1 protein as demonstrated by kinase activity comparable to wild-type Akt1 in cell culture (PMID: 23134728).
L52R missense gain of function AKT1 L52R lies within the PH domain of the Akt1 protein (UniProt.org). L52R confers a gain of function to the Akt1 protein as demonstrated by increased kinase activity and downstream signaling, and is transforming in cell culture and xenograft models (PMID: 23134728, PMID: 23237847, PMID: 27147599, PMID: 26701849).
L78T missense gain of function - predicted AKT1 L78T lies within the PH domain of the Akt1 protein (UniProt.org). L78T is predicted to confer a gain of function to the Akt1 protein as indicated by increase cell proliferation in culture (PMID: 23134728).
mutant unknown unknown AKT1 mutant indicates an unspecified mutation in the AKT1 gene.
N53A missense gain of function - predicted AKT1 N53A lies within the PH domain of the Akt1 protein (UniProt.org). N53A is predicted to confer a gain of function to the Akt1 protein as indicated by increased cell proliferation in culture (PMID: 23134728).
N53H missense loss of function - predicted AKT1 N53H lies within the PH domain of the Akt1 protein (UniProt.org). N53H has not been biochemically characterized, but results in decreased cell proliferation and viability compared to wild-type Akt1 in culture and is predicted to confer a loss of function to Akt1 (PMID: 29533785).
over exp none no effect AKT1 over exp indicates an over expression of the Akt1 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P51L missense no effect - predicted AKT1 P51L lies within the PH domain of the Akt1 protein (UniProt.org). P51L has been identified in sequencing studies (PMID: 25148578, PMID: 25303977), but is not transforming in cell culture and therefore, is predicted to have no effect on the Akt1 protein (PMID: 26701849).
P68_C77dup duplication gain of function - predicted AKT1 P68_C77dup indicates the insertion of 10 duplicate amino acids, proline (P)-68 through cysteine (C)-77 in the PH domain of the Akt1 protein (UniProt.org). P68_C77dup is predicted to confer a gain of function on the Akt1 protein as demonstrated by increased phosphorylation of Akt1 and downstream phosphorylation of S6 and PRAS40 in cell culture (PMID: 29247016).
positive unknown unknown AKT1 positive indicates the presence of the AKT1 gene, mRNA, and/or protein.
Q59E missense no effect - predicted AKT1 Q59E lies within the PH domain of the Akt1 protein (UniProt.org). Q59E demonstrates kinase activity comparable to wild-type Akt1 protein in cell culture (PMID: 23134728) and therefore, is predicted to have no effect on the Akt1 protein.
Q79E missense gain of function - predicted AKT1 Q79E lies within the PH domain of the Akt1 protein (UniProt.org). Q79E is predicted to confer a gain of function to the Akt1 protein as indicated by increased cell proliferation in culture (PMID: 23134728).
Q79K missense gain of function AKT1 Q79K lies within the PH domain of the Akt1 protein (UniProt.org). Q79K results in increased Akt1 kinase activity, downstream signaling (PMID: 27232857), and is transforming in cell culture (PMID: 23134728, PMID: 23237847).
R121W missense no effect - predicted AKT1 R121W does not lie within any known functional domains of the Akt1 protein (UniProt.org). R121W results in similar cell proliferation and viability levels as wild-type Akt1 (PMID: 29533785, PMID: 26701849) and therefore, is predicted to have no effect on the Akt1 protein.
R200A missense unknown AKT1 R200A lies within the protein kinase domain of the Akt1 protein (UniProt.org). The functional effect of R200A is conflicting as R200A demonstrated kinase activity comparable to wild-type Akt1 protein and is not transforming in cell culture (PMID: 23134728), but results in decreased phosphorylation of Akt1 in another study (PMID: 26256536).
R23A missense gain of function - predicted AKT1 R23A lies within the PH domain of the Akt1 protein (UniProt.org). R23A is predicted to confer a gain of function to the Akt1 protein as indicated by increased cell proliferation (PMID: 23134728).
R328A missense gain of function - predicted AKT1 R328A lies within the protein kinase domain of the Akt1 protein (UniProt.org). R328A is predicted to confer a gain of function to the Akt1 protein as indicated by increase cell proliferation in culture (PMID: 23134728).
R367C missense no effect - predicted AKT1 R367C lies within the protein kinase domain of the Akt1 protein (UniProt.org). R367C has not been biochemically characterized, but is not transforming in cell culture and therefore, is predicted to have no effect on the Akt1 protein (PMID: 26701849).
R370C missense unknown AKT1 R370C lies within the protein kinase domain of the Akt1 protein (UniProt.org). R370C has not been biochemically characterized, however, the effect on Akt1 protein function is conflicting, as it induces tumor formation in xenograft models (PMID: 27147599), but in another assay was is not transforming in cultured cells (PMID: 26701849).
R48C missense unknown AKT1 R48C lies within the PH domain of the Akt1 protein (UniProt.org). R48C has been identified in the scientific literature (PMID: 31837433), but has not been biochemically characterized and therefore, its effect on Akt1 protein function is unknown (PubMed, Jan 2020).
S246F missense unknown AKT1 S246F lies within the protein kinase domain of the Akt1 protein (UniProt.org). S246F has not been characterized in the scientific literature and therefore, its effect on Akt1 protein function is unknown (PubMed, Oct 2019).
S266L missense no effect - predicted AKT1 S266L lies within the protein kinase domain of the Akt1 protein (UniProt.org). S266L has not been biochemically characterized, but is not transforming in cell culture and therefore, is predicted to have no effect on the Akt1 protein (PMID: 26701849), but has been associated with drug resistance in cultured cells (PMID: 30140389). Y
T195I missense gain of function AKT1 T195I lies within the protein kinase domain of the Akt1 protein (UniProt.org). T195I confers a gain of function to the Akt1 protein as demonstrated by increased autophosphorylation and promotion of factor-independent cell survival in culture (PMID: 23134728).
V201I missense no effect - predicted AKT1 V201I lies within the protein kinase domain of the Akt1 protein (UniProt.org). V201I does not induce tumor formation in xenograft models (PMID: 27147599), and therefore, its effect on Akt1 protein function is unknown.
V270A missense gain of function - predicted AKT1 V270A lies within the protein kinase domain of the Akt1 protein (UniProt.org). V270A is predicted to confer a gain of function to the Akt1 protein as indicated by increase cell proliferation in culture (PMID: 23134728).
V271A missense gain of function - predicted AKT1 V271A lies within the protein kinase domain of the Akt1 protein (UniProt.org). V271A is predicted to confer a gain of function to the Akt1 protein as indicated by increased cell proliferation in culture (PMID: 23134728).
W80A missense no effect - predicted AKT1 W80A lies within the PH domain of the Akt1 protein (UniProt.org). W80A demonstrates phosphorylation and downstream signaling similar to wild-type Akt1 in cell culture (PMID: 25856301), however, is associated with Akt inhibitor resistance (PMID: 18669636, PMID: 25856301). Y
W80R missense gain of function - predicted AKT1 W80R lies within the PH domain of the Akt1 protein (UniProt.org). W80R results in increased repression of FOXO3a compared to wild-type Akt1 in an in vitro assay (PMID: 26137586), and therefore is predicted to result in a gain of Akt1 protein function.
wild-type none no effect Wild-type AKT1 indicates that no mutation has been detected within the AKT1 gene.
Y18S missense no effect - predicted AKT1 Y18S lies within the PH domain of the Akt1 protein (UniProt.org). Y18S demonstrated kinase activity comparable to wild-type Akt1 protein in cell culture (PMID: 23134728) and therefore, is predicted to have no effect on Akt1 protein function.