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Kinase Fusion Gene:RCC1_MARK3 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: RCC1_MARK3 | KinaseFusionDB ID: KFG5329 | FusionGDB2.0 ID: KFG5329 | Hgene | Tgene | Gene symbol | RCC1 | MARK3 | Gene ID | 1104 | 4140 | |
Gene name | regulator of chromosome condensation 1 | microtubule affinity regulating kinase 3 | ||||||||||
Synonyms | CHC1|RCC1-I | CTAK1|KP78|PAR1A|Par-1a|VIPB | ||||||||||
Cytomap | 1p35.3 | 14q32.32-q32.33 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | regulator of chromosome condensationcell cycle regulatory proteinguanine nucleotide-releasing 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 | 20240407 | 20240407 | ||||||||||
UniProtAcc | P18754 | P27448 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000373833, ENST00000398958, ENST00000373831, ENST00000373832, ENST00000429051, | ENST00000216288, ENST00000303622, ENST00000335102, ENST00000416682, ENST00000429436, ENST00000440884, ENST00000553942, ENST00000561071, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: RCC1 [Title/Abstract] AND MARK3 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | RCC1(28834672)-MARK3(103871413), # 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 | RCC1 | GO:0007052 | mitotic spindle organization | 15014043 |
Hgene | RCC1 | GO:0007088 | regulation of mitotic nuclear division | 15014043 |
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 RCC1 (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. |
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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 |
ChimerDB4 | ERR315419 | RCC1 | chr1 | 28834672 | MARK3 | chr14 | 103871413 |
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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/:28834672/:103871413) - 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 |
RCC1 | MARK3 |
FUNCTION: Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP, and thereby plays an important role in RAN-mediated functions in nuclear import and mitosis (PubMed:1944575, PubMed:17435751, PubMed:20668449, PubMed:22215983, PubMed:11336674). Contributes to the generation of high levels of chromosome-associated, GTP-bound RAN, which is important for mitotic spindle assembly and normal progress through mitosis (PubMed:12194828, PubMed:17435751, PubMed:22215983). Via its role in maintaining high levels of GTP-bound RAN in the nucleus, contributes to the release of cargo proteins from importins after nuclear import (PubMed:22215983). Involved in the regulation of onset of chromosome condensation in the S phase (PubMed:3678831). Binds both to the nucleosomes and double-stranded DNA (PubMed:17435751, PubMed:18762580). {ECO:0000269|PubMed:11336674, ECO:0000269|PubMed:12194828, ECO:0000269|PubMed:17435751, ECO:0000269|PubMed:18762580, ECO:0000269|PubMed:1944575, ECO:0000269|PubMed:20668449, ECO:0000269|PubMed:22215983, ECO:0000269|PubMed:3678831}. | 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 |
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Kinase-Substrate Information of RCC1_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 |
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Related Drugs to RCC1_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 RCC1-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 |
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Related Diseases to RCC1_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 |
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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 |