RBCC Red Blood Cell Collection

AKT3_HUMAN

Source: PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: AKT3 , PKBG
Protein names and data: AKT3_HUMAN , RAC-gamma serine/threonine-protein kinase; 2.7.11.1 , Protein kinase Akt-3; Protein kinase B gamma; PKB gamma; RAC-PK-gamma; STK-2 Lenght: 479 a.a.
Mass: 55775 Da
fasta formatted sequence
Function: AKT3 is one of 3 closely related serine/threonine- protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT3 is the least studied AKT isoform. It plays an important role in brain development and is crucial for the viability of malignant glioma cells. AKT3 isoform may also be the key molecule in up-regulation and down-regulation of MMP13 via IL13. Required for the coordination of mitochondrial biogenesis with growth factor-induced increases in cellular energy demands. Down-regulation by RNA interference reduces the expression of the phosphorylated form of BAD, resulting in the induction of caspase- dependent apoptosis.
Catalytic activity: ATP + a protein = ADP + a phosphoprotein.
Disease: ( OMIM: 603387 611223 ) Note=AKT3 is a key modulator of several tumors like melanoma, glioma and ovarian cancer. Active AKT3 increases progressively during melanoma tumor progression with highest levels present in advanced-stage metastatic melanomas. Promotes melanoma tumorigenesis by decreasing apoptosis. Plays a key role in the genesis of ovarian cancers through modulation of G2/M phase transition. With AKT2, plays a pivotal role in the biology of glioblastoma. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) [MIM:603387]: A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus. Cytoplasm. Membrane; Peripheral membrane protein. Note=Membrane-associated after cell stimulation leading to its translocation.
Tissue specificity: In adult tissues, it is highly expressed in brain, lung and kidney, but weakly in heart, testis and liver. In fetal tissues, it is highly expressed in heart, liver and brain and not at all in kidney.

Genetic variants

17 - 17 E -> K (in MPPH and melanoma; results in activation of AKT). VAR_065830
171 - 171 G -> R (in a glioblastoma multiforme sample; somatic mutation). VAR_040358
229 - 229 N -> S (in MPPH). VAR_069260
465 - 465 R -> W (in MPPH; disease phenotype overlaps with megalencephaly-capillary malformation syndrome). VAR_069261

Database cross-references

UniProt: Q9Y243
Ensembl: ENST00000263826
Ensembl: ENST00000336199
Ensembl: ENST00000366539
Ensembl: ENST00000366540
MIM: 603387
MIM: 611223
neXtProt: NX_Q9Y243
Antibodypedia: Q9Y243 (may not find the protein thus also not any antibody)
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