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Kinase Fusion Gene:GULP1_AKT3 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: GULP1_AKT3 | KinaseFusionDB ID: KFG2635 | FusionGDB2.0 ID: KFG2635 | Hgene | Tgene | Gene symbol | GULP1 | AKT3 | Gene ID | 51454 | 10000 | |
| Gene name | GULP PTB domain containing engulfment adaptor 1 | AKT serine/threonine kinase 3 | ||||||||||
| Synonyms | CED-6|CED6|GULP | MPPH|MPPH2|PKB-GAMMA|PKBG|PRKBG|RAC-PK-gamma|RAC-gamma|STK-2 | ||||||||||
| Cytomap | 2q32.1-q32.2 | 1q43-q44 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | PTB domain-containing engulfment adapter protein 1GULP, engulfment adaptor PTB domain containing 1PTB domain adapter protein CED-6PTB domain adaptor protein CED-6cell death protein 6 homologengulfment adapter protein | RAC-gamma serine/threonine-protein kinasePKB gammaRAC-gamma serine/threonine protein kinasev-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) | ||||||||||
| Modification date | 20240403 | 20240407 | ||||||||||
| UniProtAcc | Q9UBP9 | Q9Y243 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000479019, ENST00000359135, ENST00000409580, ENST00000409609, ENST00000409637, ENST00000409805, ENST00000409830, ENST00000409843, ENST00000410051, | ENST00000263826, ENST00000336199, ENST00000366539, ENST00000366540, ENST00000492957, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: GULP1 [Title/Abstract] AND AKT3 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | GULP1(189331296)-AKT3(243961366), # samples:1 | |||||||||||
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | GULP1 | GO:0006911 | phagocytosis, engulfment | 11729193 |
| Tgene | AKT3 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 28254819 |
| Tgene | AKT3 | GO:1905564 | positive regulation of vascular endothelial cell proliferation | 28254819 |
| Kinase Fusion gene breakpoints across GULP1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across AKT3 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Source | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChiTaRS5.0 | BP277880 | GULP1 | chr2 | 189331296 | AKT3 | chr1 | 243961366 |
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Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:189331296/:243961366) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GULP1 | AKT3 |
| FUNCTION: May function as an adapter protein. Required for efficient phagocytosis of apoptotic cells. Modulates cellular glycosphingolipid and cholesterol transport. May play a role in the internalization and endosomal trafficking of various LRP1 ligands, such as PSAP. Increases cellular levels of GTP-bound ARF6. {ECO:0000269|PubMed:10574763, ECO:0000269|PubMed:10574771, ECO:0000269|PubMed:16497666, ECO:0000269|PubMed:17398097}. | 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. {ECO:0000269|PubMed:18524868, ECO:0000269|PubMed:21191416}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of GULP1_AKT3 |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| AKT3 | Q9Y243 | human | HSF1 | Q00613 | S230 | PkYSRQFsLEHVHGS | |
| AKT3 | Q9Y243 | human | ADAR | P55265 | T1033 | RLGERLRtMSCSDKI | A_deamin |
| AKT3 | Q9Y243 | human | ADARB1 | P78563 | T553 | LQGERLLtMSCSDKI | A_deamin |
| AKT3 | Q9Y243 | human | NCF1 | P14598 | S304 | GAPPRRssIRNAHsI | NECFESHC |
| AKT3 | Q9Y243 | human | AGO2 | Q9UKV8 | S387 | SkLMRsAsFNtDPyV | ArgoL2 |
| AKT3 | Q9Y243 | human | IWS1 | Q96ST2 | T721 | QRRRMNstGGQtPRR | |
| AKT3 | Q9Y243 | human | CYCS | P99999 | Y47 | ktGQAPGysytAANk | Cytochrom_C |
| AKT3 | Q9Y243 | human | UPF1 | Q92900 | T151 | FCNGRGNtSGSHIVN | UPF1_Zn_bind |
| AKT3 | Q9Y243 | human | TBX3 | O15119 | S719 | AEkEAAtsELQSIQR | |
| AKT3 | Q9Y243 | human | BRAF | P15056 | S365 | GQRDRsssAPNVHIN | |
| AKT3 | Q9Y243 | human | RPS6KA3 | P51812 | T115 | KVRDRVRtKMERDIL | |
| AKT3 | Q9Y243 | human | BRAF | P15056 | S429 | PQRERKsssssEDRN | |
| AKT3 | Q9Y243 | human | NF2 | P35240 | S10 | GAIASRMsFSsLkRK | |
| AKT3 | Q9Y243 | human | NCF1 | P14598 | S328 | QDAYRRNsVRFLQQR | NECFESHC |
| AKT3 | Q9Y243 | human | EMSY | Q7Z589 | T207 | KPRKRRRtNsssssP | |
| AKT3 | Q9Y243 | human | IRF3 | Q14653 | S385 | MARVGGAssLENtVD | |
| AKT3 | Q9Y243 | human | IWS1 | Q96ST2 | S720 | PQRRRMNstGGQtPR | |
| AKT3 | Q9Y243 | human | EMSY | Q7Z589 | S209 | RKRRRtNsssssPVV |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| AKT3 | ID | Description | 0.00e+00 |
| AKT3 | GO:0070922 | RISC complex assembly | 1.60e-02 |
| AKT3 | GO:0031054 | pre-miRNA processing | 1.60e-02 |
| AKT3 | GO:0016553 | base conversion or substitution editing | 1.60e-02 |
| AKT3 | GO:0032496 | response to lipopolysaccharide | 1.60e-02 |
| AKT3 | GO:0051028 | mRNA transport | 1.60e-02 |
| AKT3 | GO:0002237 | response to molecule of bacterial origin | 1.60e-02 |
| AKT3 | GO:0050657 | nucleic acid transport | 1.65e-02 |
| AKT3 | GO:0050658 | RNA transport | 1.65e-02 |
| AKT3 | GO:0051236 | establishment of RNA localization | 1.65e-02 |
| AKT3 | GO:0045088 | regulation of innate immune response | 1.65e-02 |
| AKT3 | GO:0045070 | positive regulation of viral genome replication | 1.66e-02 |
| AKT3 | GO:0071276 | cellular response to cadmium ion | 2.17e-02 |
| AKT3 | GO:0006403 | RNA localization | 2.17e-02 |
| AKT3 | GO:0071248 | cellular response to metal ion | 2.17e-02 |
| AKT3 | GO:0060338 | regulation of type I interferon-mediated signaling pathway | 2.21e-02 |
| AKT3 | GO:0033574 | response to testosterone | 2.21e-02 |
| AKT3 | GO:0035196 | miRNA processing | 2.21e-02 |
| AKT3 | GO:0015931 | nucleobase-containing compound transport | 2.21e-02 |
| AKT3 | GO:0071222 | cellular response to lipopolysaccharide | 2.21e-02 |
| AKT3 | GO:0071241 | cellular response to inorganic substance | 2.21e-02 |
| AKT3 | GO:0050730 | regulation of peptidyl-tyrosine phosphorylation | 2.21e-02 |
| AKT3 | GO:0051496 | positive regulation of stress fiber assembly | 2.23e-02 |
| AKT3 | GO:0071219 | cellular response to molecule of bacterial origin | 2.23e-02 |
| AKT3 | GO:0046686 | response to cadmium ion | 2.64e-02 |
| AKT3 | GO:0071216 | cellular response to biotic stimulus | 2.64e-02 |
| AKT3 | GO:0032233 | positive regulation of actin filament bundle assembly | 2.64e-02 |
| AKT3 | GO:0018108 | peptidyl-tyrosine phosphorylation | 2.64e-02 |
| AKT3 | GO:0048524 | positive regulation of viral process | 2.64e-02 |
| AKT3 | GO:1904036 | negative regulation of epithelial cell apoptotic process | 2.64e-02 |
| AKT3 | GO:0018212 | peptidyl-tyrosine modification | 2.64e-02 |
| AKT3 | GO:0006406 | mRNA export from nucleus | 3.01e-02 |
| AKT3 | GO:0001933 | negative regulation of protein phosphorylation | 3.15e-02 |
| AKT3 | GO:0002224 | toll-like receptor signaling pathway | 3.15e-02 |
| AKT3 | GO:0048332 | mesoderm morphogenesis | 3.26e-02 |
| AKT3 | GO:0042509 | regulation of tyrosine phosphorylation of STAT protein | 3.26e-02 |
| AKT3 | GO:0042326 | negative regulation of phosphorylation | 3.26e-02 |
| AKT3 | GO:0007260 | tyrosine phosphorylation of STAT protein | 3.26e-02 |
| AKT3 | GO:0060337 | type I interferon-mediated signaling pathway | 3.26e-02 |
| AKT3 | GO:0071357 | cellular response to type I interferon | 3.26e-02 |
| AKT3 | GO:0051607 | defense response to virus | 3.26e-02 |
| AKT3 | GO:0140546 | defense response to symbiont | 3.26e-02 |
| AKT3 | GO:0045069 | regulation of viral genome replication | 3.26e-02 |
| AKT3 | GO:0070918 | regulatory ncRNA processing | 3.26e-02 |
| AKT3 | GO:0098586 | cellular response to virus | 3.33e-02 |
| AKT3 | GO:0034340 | response to type I interferon | 3.33e-02 |
| AKT3 | GO:0006405 | RNA export from nucleus | 3.41e-02 |
| AKT3 | GO:0010038 | response to metal ion | 3.41e-02 |
| AKT3 | GO:0051492 | regulation of stress fiber assembly | 3.41e-02 |
| AKT3 | GO:1903311 | regulation of mRNA metabolic process | 3.41e-02 |
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Related Drugs to GULP1_AKT3 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning GULP1-AKT3 and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to GULP1_AKT3 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
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