| UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY |
|
|||||||
|
Kinase Fusion Gene:IKBKAP_MARK3 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: IKBKAP_MARK3 | KinaseFusionDB ID: KFG2838 | FusionGDB2.0 ID: KFG2838 | Hgene | Tgene | Gene symbol | IKBKAP | MARK3 | Gene ID | 8518 | 4140 | |
| Gene name | elongator acetyltransferase complex subunit 1 | microtubule affinity regulating kinase 3 | ||||||||||
| Synonyms | DYS|FD|IKAP|IKBKAP|IKI3|TOT1 | CTAK1|KP78|PAR1A|Par-1a|VIPB | ||||||||||
| Cytomap | 9q31.3 | 14q32.32-q32.33 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | elongator complex protein 1IKK complex-associated proteinikappaB kinase complex-associated proteininhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | MAP/microtubule affinity-regulating kinase 3C-TAK1ELKL motif kinase 2EMK-2cdc25C-associated protein kinase 1protein kinase STK10ser/Thr protein kinase PAR-1serine/threonine-protein kinase p78 | ||||||||||
| Modification date | 20240411 | 20240407 | ||||||||||
| UniProtAcc | O95163 | P27448 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000374647, ENST00000467959, ENST00000537196, | ENST00000216288, ENST00000303622, ENST00000335102, ENST00000416682, ENST00000429436, ENST00000440884, ENST00000553942, ENST00000561071, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: IKBKAP [Title/Abstract] AND MARK3 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | IKBKAP(111695768)-MARK3(103932419), # 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 |
| Tgene | MARK3 | GO:0018105 | peptidyl-serine phosphorylation | 9543386 |
| Tgene | MARK3 | GO:0032092 | positive regulation of protein binding | 9543386 |
| Tgene | MARK3 | GO:0035331 | negative regulation of hippo signaling | 28087714 |
| Tgene | MARK3 | GO:0036289 | peptidyl-serine autophosphorylation | 9543386 |
| Tgene | MARK3 | GO:1900181 | negative regulation of protein localization to nucleus | 16822840 |
| Kinase Fusion gene breakpoints across IKBKAP (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 MARK3 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Top |
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 | BE073873 | IKBKAP | chr9 | 111695768 | MARK3 | chr14 | 103932419 |
Top |
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) |
Top |
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 |
Top |
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/:111695768/:103932419) - 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. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IKBKAP | MARK3 |
| FUNCTION: Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244). The elongator complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity). ELP1 binds to tRNA, mediating interaction of the elongator complex with tRNA (By similarity). May act as a scaffold protein that assembles active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK) (PubMed:9751059). {ECO:0000250|UniProtKB:Q06706, ECO:0000250|UniProtKB:Q7TT37, ECO:0000269|PubMed:9751059, ECO:0000303|PubMed:29332244}. | FUNCTION: Serine/threonine-protein kinase (PubMed:16822840, PubMed:16980613, PubMed:23666762). Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Phosphorylates CDC25C on 'Ser-216' (PubMed:12941695). Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus (PubMed:16980613). Regulates localization and activity of MITF by mediating its phosphorylation, promoting subsequent interaction between MITF and 14-3-3 and retention in the cytosol (PubMed:16822840). Negatively regulates the Hippo signaling pathway and antagonizes the phosphorylation of LATS1. Cooperates with DLG5 to inhibit the kinase activity of STK3/MST2 toward LATS1 (PubMed:28087714). Phosphorylates PKP2 and KSR1 (PubMed:12941695). {ECO:0000269|PubMed:12941695, ECO:0000269|PubMed:16822840, ECO:0000269|PubMed:16980613, ECO:0000269|PubMed:23666762, ECO:0000269|PubMed:28087714}. |
| 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 |
Top |
Kinase-Substrate Information of IKBKAP_MARK3 |
| 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 |
| MARK3 | P27448-3 | human | MARK3 | P27448-3 | S601 | SQTRsRGstNLFsKL | |
| MARK3 | P27448-3 | human | MARK3 | P27448-3 | S598 | TPLSQTRsRGstNLF | |
| MARK3 | P27448-3 | human | MARK3 | P27448-3 | S606 | RGstNLFsKLTSKLT | |
| MARK3 | P27448-3 | human | MARK3 | P27448-3 | T602 | QTRsRGstNLFsKLT | |
| MARK3 | P27448 | human | MEF2C | Q06413 | S222 | GYGNPRNsPGLLVsP | |
| MARK3 | P27448 | human | PPP1R2 | P41236 | S72 | LMKIDEPstPyHSMM | IPP-2 |
| MARK3 | P27448 | human | CDC25C | P30307 | S216 | sGLyRsPsMPENLNR | M-inducer_phosp |
| MARK3 | P27448 | human | TNK1 | Q13470 | S502 | RMKGIsRsLEsVLsL | |
| MARK3 | P27448 | human | FEZ1 | Q99689 | S58 | SEIISFKsMEDLVNE | FEZ |
| MARK3 | P27448 | human | ARHGEF2 | Q92974 | S151 | LsLAksVsttNIAGH |
| 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 |
Top |
Related Drugs to IKBKAP_MARK3 |
| 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 IKBKAP-MARK3 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 |
Top |
Related Diseases to IKBKAP_MARK3 |
| 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 |
Top |
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 |
Copyright 2024-Present -The University of Texas Health Science Center at Houston
Web File Viewing | Emergency Information |Campus Carry|Site Policies |