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Kinase Fusion Gene:SH3RF1_NEK1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: SH3RF1_NEK1 | KinaseFusionDB ID: KFG5789 | FusionGDB2.0 ID: KFG5789 | Hgene | Tgene | Gene symbol | SH3RF1 | NEK1 | Gene ID | 57630 | 4750 | |
| Gene name | SH3 domain containing ring finger 1 | NIMA related kinase 1 | ||||||||||
| Synonyms | POSH|RNF142|SH3MD2 | ALS24|NY-REN-55|OFD2|SRPS2|SRPS2A|SRTD6 | ||||||||||
| Cytomap | 4q32.3-q33 | 4q33 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | E3 ubiquitin-protein ligase SH3RF1RING-type E3 ubiquitin transferase SH3RF1SH3 domain-containing RING finger protein 1SH3 multiple domains 2SH3 multiple domains protein 2plenty of SH3 domainsplenty of SH3sputative E3 ubiquitin-protein ligase SH3RF1 | serine/threonine-protein kinase Nek1NIMA (never in mitosis gene a)-related kinase 1never in mitosis A-related kinase 1nimA-related protein kinase 1protein-serine/threonine kinaserenal carcinoma antigen NY-REN-55 | ||||||||||
| Modification date | 20240411 | 20240403 | ||||||||||
| UniProtAcc | Q7Z6J0 | Q8NG66 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000508685, ENST00000284637, | ENST00000439128, ENST00000507142, ENST00000510533, ENST00000511633, ENST00000512193, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: SH3RF1 [Title/Abstract] AND NEK1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SH3RF1(170037420)-NEK1(170327898), # samples:2 | |||||||||||
| 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 | NEK1 | GO:0006468 | protein phosphorylation | 19158487 |
| Kinase Fusion gene breakpoints across SH3RF1 (5'-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 breakpoints across NEK1 (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 | TCGA-G7-6793 | SH3RF1 | chr4 | 170037420 | NEK1 | chr4 | 170327898 |
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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/chr4:170037420/chr4:170327898) - 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 |
| SH3RF1 | NEK1 |
| FUNCTION: Has E3 ubiquitin-protein ligase activity. In the absence of an external substrate, it can catalyze self-ubiquitination (PubMed:15659549, PubMed:20696164). Stimulates ubiquitination of potassium channel KCNJ1, enhancing it's dynamin-dependent and clathrin-independent endocytosis (PubMed:19710010). Acts as a scaffold protein that coordinates with MAPK8IP1/JIP1 in organizing different components of the JNK pathway, including RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/or MAPK9/JNK2 into a functional multiprotein complex to ensure the effective activation of the JNK signaling pathway. Regulates the differentiation of CD4(+) and CD8(+) T-cells and promotes T-helper 1 (Th1) cell differentiation. Regulates the activation of MAPK8/JNK1 and MAPK9/JNK2 in CD4(+) T-cells and the activation of MAPK8/JNK1 in CD8(+) T-cells. Plays a crucial role in the migration of neocortical neurons in the developing brain. Controls proper cortical neuronal migration and the formation of proximal cytoplasmic dilation in the leading process (PCDLP) in migratory neocortical neurons by regulating the proper localization of activated RAC1 and F-actin assembly (By similarity). {ECO:0000250|UniProtKB:Q69ZI1, ECO:0000269|PubMed:15659549, ECO:0000269|PubMed:19710010, ECO:0000269|PubMed:20696164}.; FUNCTION: (Microbial infection) Plays an essential role in the targeting of HIV-1 Gag to the plasma membrane, this function is dependent on it's RING domain, and hence it's E3 ligase activity. {ECO:0000269|PubMed:15659549}. | FUNCTION: Protein kinase which plays an important role in the G2/M checkpoint response to DNA damage. Controls degradation of CDC25A by directly phosphorylating it on residues whose phosphorylation is required for BTRC-mediated polyubiquitination and degradation. {ECO:0000269|PubMed:12154088, ECO:0000269|PubMed:19734889, ECO:0000269|PubMed:20090422}. |
| 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 SH3RF1_NEK1 |
| 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 |
| NEK1 | Q96PY6 | human | ME1 | P48163 | S336 | KKIWLVDskGLIVKG | Malic_M |
| NEK1 | Q96PY6 | human | VHL | P40337 | T105 | YPtLPPGtGRRIHsy | VHL |
| NEK1 | Q96PY6 | human | RAD54L | Q92698 | S572 | PDFVFMLsSKAGGCG | Helicase_C |
| NEK1 | Q96PY6 | human | VHL | P40337 | T202 | QkDLERLtQERIAHQ | VHL_C |
| NEK1 | Q96PY6 | human | VHL | P40337 | Y112 | tGRRIHsyRGHLWLF | VHL |
| NEK1 | Q96PY6 | human | VHL | P40337 | S183 | RRLDIVRsLyEDLED | VHL_C |
| NEK1 | Q96PY6 | human | VDAC1 | P21796 | S193 | DGtEFGGsIyQkVNK | Porin_3; TM |
| NEK1 | Q96PY6 | human | VHL | P40337 | Y175 | sLVkPENyRRLDIVR | VHL_C |
| NEK1 | Q96PY6 | human | VHL | P40337 | S168 | RCLQVVRsLVkPENy | VHL_C |
| NEK1 | Q96PY6 | human | VHL | P40337 | T100 | GEPQPYPtLPPGtGR | VHL |
| NEK1 | Q96PY6 | human | NDC80 | O14777 | S165 | LGYPFALsKSSMYTV | Ndc80_HEC |
| 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 |
| NEK1 | ID | Description | 0.00e+00 |
| NEK1 | GO:0061912 | selective autophagy | 3.60e-02 |
| NEK1 | GO:0006090 | pyruvate metabolic process | 3.60e-02 |
| NEK1 | GO:0007127 | meiosis I | 3.60e-02 |
| NEK1 | GO:0061982 | meiosis I cell cycle process | 3.60e-02 |
| NEK1 | GO:0140013 | meiotic nuclear division | 3.60e-02 |
| NEK1 | GO:1903046 | meiotic cell cycle process | 3.60e-02 |
| NEK1 | GO:0051321 | meiotic cell cycle | 3.60e-02 |
| NEK1 | GO:0061072 | iris morphogenesis | 3.60e-02 |
| NEK1 | GO:0061418 | regulation of transcription from RNA polymerase II promoter in response to hypoxia | 3.60e-02 |
| NEK1 | GO:0070244 | negative regulation of thymocyte apoptotic process | 3.60e-02 |
| NEK1 | GO:0098779 | positive regulation of mitophagy in response to mitochondrial depolarization | 3.60e-02 |
| NEK1 | GO:0031647 | regulation of protein stability | 3.60e-02 |
| NEK1 | GO:0003310 | pancreatic A cell differentiation | 3.60e-02 |
| NEK1 | GO:0006734 | NADH metabolic process | 3.60e-02 |
| NEK1 | GO:1900038 | negative regulation of cellular response to hypoxia | 3.60e-02 |
| NEK1 | GO:0016236 | macroautophagy | 3.60e-02 |
| NEK1 | GO:0036444 | calcium import into the mitochondrion | 3.60e-02 |
| NEK1 | GO:0045602 | negative regulation of endothelial cell differentiation | 3.60e-02 |
| NEK1 | GO:0090232 | positive regulation of spindle checkpoint | 3.60e-02 |
| NEK1 | GO:0090267 | positive regulation of mitotic cell cycle spindle assembly checkpoint | 3.60e-02 |
| NEK1 | GO:0090306 | meiotic spindle assembly | 3.60e-02 |
| NEK1 | GO:0010506 | regulation of autophagy | 3.60e-02 |
| NEK1 | GO:0007144 | female meiosis I | 3.60e-02 |
| NEK1 | GO:0044771 | meiotic cell cycle phase transition | 3.60e-02 |
| NEK1 | GO:0070243 | regulation of thymocyte apoptotic process | 3.60e-02 |
| NEK1 | GO:1904925 | positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization | 3.60e-02 |
| NEK1 | GO:1903599 | positive regulation of autophagy of mitochondrion | 3.60e-02 |
| NEK1 | GO:1904923 | regulation of autophagy of mitochondrion in response to mitochondrial depolarization | 3.60e-02 |
| NEK1 | GO:1901524 | regulation of mitophagy | 3.60e-02 |
| NEK1 | GO:0014841 | skeletal muscle satellite cell proliferation | 3.60e-02 |
| NEK1 | GO:0006851 | mitochondrial calcium ion transmembrane transport | 3.60e-02 |
| NEK1 | GO:1901978 | positive regulation of cell cycle checkpoint | 3.60e-02 |
| NEK1 | GO:0000212 | meiotic spindle organization | 3.60e-02 |
| NEK1 | GO:0000280 | nuclear division | 3.60e-02 |
| NEK1 | GO:0034244 | negative regulation of transcription elongation by RNA polymerase II | 3.60e-02 |
| NEK1 | GO:0042069 | regulation of catecholamine metabolic process | 3.60e-02 |
| NEK1 | GO:0070242 | thymocyte apoptotic process | 3.60e-02 |
| NEK1 | GO:1900037 | regulation of cellular response to hypoxia | 3.60e-02 |
| NEK1 | GO:0051315 | attachment of mitotic spindle microtubules to kinetochore | 3.60e-02 |
| NEK1 | GO:0051383 | kinetochore organization | 3.60e-02 |
| NEK1 | GO:0090231 | regulation of spindle checkpoint | 3.60e-02 |
| NEK1 | GO:0090266 | regulation of mitotic cell cycle spindle assembly checkpoint | 3.60e-02 |
| NEK1 | GO:0098780 | response to mitochondrial depolarisation | 3.60e-02 |
| NEK1 | GO:1903504 | regulation of mitotic spindle checkpoint | 3.60e-02 |
| NEK1 | GO:0032785 | negative regulation of DNA-templated transcriptio | 6.08e-03 |
| NEK1 | GO:0046426 | negative regulation of receptor signaling pathway via JAK-STAT | 3.84e-02 |
| NEK1 | GO:0014856 | skeletal muscle cell proliferation | 3.84e-02 |
| NEK1 | GO:0070233 | negative regulation of T cell apoptotic process | 3.84e-02 |
| NEK1 | GO:0006582 | melanin metabolic process | 3.92e-02 |
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Related Drugs to SH3RF1_NEK1 |
| 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 SH3RF1-NEK1 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 SH3RF1_NEK1 |
| 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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