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Kinase Fusion Gene:HDAC1_MARK1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: HDAC1_MARK1 | KinaseFusionDB ID: KFG2652 | FusionGDB2.0 ID: KFG2652 | Hgene | Tgene | Gene symbol | HDAC1 | MARK1 | Gene ID | 3065 | 4139 | |
| Gene name | histone deacetylase 1 | microtubule affinity regulating kinase 1 | ||||||||||
| Synonyms | GON-10|HD1|KDAC1|RPD3|RPD3L1 | MARK|Par-1c|Par1c | ||||||||||
| Cytomap | 1p35.2-p35.1 | 1q41 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | histone deacetylase 1protein deacetylase HDAC1protein decrotonylase HDAC1reduced potassium dependency, yeast homolog-like 1 | serine/threonine-protein kinase MARK1MAP/microtubule affinity-regulating kinase 1PAR1 homolog c | ||||||||||
| Modification date | 20240411 | 20240403 | ||||||||||
| UniProtAcc | Q13547 | Q9P0L2 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000490081, ENST00000373541, ENST00000373548, | ENST00000366917, ENST00000366918, ENST00000402574, ENST00000485104, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: HDAC1 [Title/Abstract] AND MARK1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | HDAC1(32796286)-MARK1(220800187), # 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 | HDAC1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18854353|30599067 |
| Hgene | HDAC1 | GO:0006338 | chromatin remodeling | 9790534 |
| Hgene | HDAC1 | GO:0006476 | protein deacetylation | 23629966 |
| Hgene | HDAC1 | GO:0045893 | positive regulation of DNA-templated transcription | 16762839 |
| Hgene | HDAC1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16762839 |
| Hgene | HDAC1 | GO:0060766 | negative regulation of androgen receptor signaling pathway | 15919722 |
| Tgene | MARK1 | GO:0006468 | protein phosphorylation | 14976552 |
| Tgene | MARK1 | GO:0010628 | positive regulation of gene expression | 31281935 |
| Tgene | MARK1 | GO:0010629 | negative regulation of gene expression | 31281935 |
| Tgene | MARK1 | GO:0010719 | negative regulation of epithelial to mesenchymal transition | 31281935 |
| Tgene | MARK1 | GO:0035556 | intracellular signal transduction | 14976552 |
| Kinase Fusion gene breakpoints across HDAC1 (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 MARK1 (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-A2-A25B-01A | HDAC1 | chr1 | 32796286 | MARK1 | chr1 | 220800187 |
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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/:32796286/:220800187) - 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 |
| HDAC1 | MARK1 |
| FUNCTION: Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:16762839, PubMed:17704056, PubMed:28497810). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events (PubMed:16762839, PubMed:17704056). Histone deacetylases act via the formation of large multiprotein complexes (PubMed:16762839, PubMed:17704056). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666). Also functions as deacetylase for non-histone targets, such as NR1D2, RELA, SP1, SP3 and TSHZ3 (PubMed:12837748, PubMed:16478997, PubMed:17996965, PubMed:19343227). Deacetylates SP proteins, SP1 and SP3, and regulates their function (PubMed:12837748, PubMed:16478997). Component of the BRG1-RB1-HDAC1 complex, which negatively regulates the CREST-mediated transcription in resting neurons (PubMed:19081374). Upon calcium stimulation, HDAC1 is released from the complex and CREBBP is recruited, which facilitates transcriptional activation (PubMed:19081374). Deacetylates TSHZ3 and regulates its transcriptional repressor activity (PubMed:19343227). Deacetylates 'Lys-310' in RELA and thereby inhibits the transcriptional activity of NF-kappa-B (PubMed:17000776). Deacetylates NR1D2 and abrogates the effect of KAT5-mediated relieving of NR1D2 transcription repression activity (PubMed:17996965). Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development (By similarity). Involved in CIART-mediated transcriptional repression of the circadian transcriptional activator: CLOCK-BMAL1 heterodimer (By similarity). Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex or CRY1 through histone deacetylation (By similarity). In addition to protein deacetylase activity, also has protein-lysine deacylase activity: acts as a protein decrotonylase by mediating decrotonylation ((2E)-butenoyl) of histones (PubMed:28497810). {ECO:0000250|UniProtKB:O09106, ECO:0000269|PubMed:12837748, ECO:0000269|PubMed:16428440, ECO:0000269|PubMed:16478997, ECO:0000269|PubMed:16762839, ECO:0000269|PubMed:17000776, ECO:0000269|PubMed:17704056, ECO:0000269|PubMed:17996965, ECO:0000269|PubMed:19081374, ECO:0000269|PubMed:19343227, ECO:0000269|PubMed:28497810, ECO:0000269|PubMed:28977666}. | FUNCTION: Serine/threonine-protein kinase (PubMed:23666762). Involved in cell polarity and microtubule dynamics regulation. Phosphorylates DCX, MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Involved in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins (DVL1, DVL2 and/or DVL3). {ECO:0000269|PubMed:11433294, ECO:0000269|PubMed:17573348, ECO:0000269|PubMed:23666762}. |
| 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 HDAC1_MARK1 |
| 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 |
| MARK1 | Q9P0L2 | human | MAPT | P10636-8 | T231 | KKVAVVRtPPKsPss | |
| MARK1 | Q9P0L2 | human | MAPT | P10636-8 | S320 | VDLskVTskCGsLGN | Tubulin-binding |
| MARK1 | Q9P0L2 | human | MAPT | P10636-8 | S396 | GAEIVyKsPVVsGDt | |
| MARK1 | Q9P0L2 | human | MAPT | P10636-8 | S262 | NVKskIGstENLkHQ | Tubulin-binding |
| MARK1 | Q9P0L2 | human | MAPT | P10636-8 | S324 | kVTskCGsLGNIHHk | Tubulin-binding |
| MARK1 | Q9P0L2 | human | MAPT | P10636-8 | S293 | NVQskCGsKDNIkHV | Tubulin-binding |
| MARK1 | Q9P0L2 | human | TNK1 | Q13470 | S502 | RMKGIsRsLEsVLsL | |
| MARK1 | Q9P0L2 | human | DIXDC1 | Q155Q3-2 | S381 | SKLPHSQsSPTVSST | |
| MARK1 | Q9P0L2 | human | MAPT | P10636-8 | S356 | rVQskIGsLDNItHV | Tubulin-binding |
| MARK1 | Q9P0L2 | human | FEZ1 | Q99689 | S58 | SEIISFKsMEDLVNE | FEZ |
| MARK1 | Q9P0L2 | human | DIXDC1 | Q155Q3 | S592 | SKLPHsQssPTVSST | |
| MARK1 | Q9P0L2 | human | MAPT | P10636-8 | S422 | GsIDMVDsPQLAtLA | |
| MARK1 | Q9P0L2 | human | MAPT | P10636-8 | S305 | kHVPGGGsVQIVykP | Tubulin-binding |
| 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 |
| MARK1 | ID | Description | 0.00e+00 |
| MARK1 | GO:0019896 | axonal transport of mitochondrion | 5.74e-04 |
| MARK1 | GO:0032886 | regulation of microtubule-based process | 5.74e-04 |
| MARK1 | GO:0034643 | establishment of mitochondrion localizatio | 1.09e-05 |
| MARK1 | GO:0051654 | establishment of mitochondrion localization | 6.15e-04 |
| MARK1 | GO:0051646 | mitochondrion localization | 1.44e-03 |
| MARK1 | GO:0098930 | axonal transport | 2.09e-03 |
| MARK1 | GO:0008088 | axo-dendritic transport | 2.57e-03 |
| MARK1 | GO:0072384 | organelle transport along microtubule | 3.06e-03 |
| MARK1 | GO:0070507 | regulation of microtubule cytoskeleton organization | 9.01e-03 |
| MARK1 | GO:0010970 | transport along microtubule | 9.46e-03 |
| MARK1 | GO:0021543 | pallium development | 1.06e-02 |
| MARK1 | GO:0030705 | cytoskeleton-dependent intracellular transport | 1.13e-02 |
| MARK1 | GO:0099111 | microtubule-based transport | 1.13e-02 |
| MARK1 | GO:0021537 | telencephalon development | 1.76e-02 |
| MARK1 | GO:0010506 | regulation of autophagy | 2.39e-02 |
| MARK1 | GO:0031346 | positive regulation of cell projection organization | 2.39e-02 |
| MARK1 | GO:1902513 | regulation of organelle transport along microtubule | 2.39e-02 |
| MARK1 | GO:0010639 | negative regulation of organelle organization | 2.39e-02 |
| MARK1 | GO:0010917 | negative regulation of mitochondrial membrane potential | 2.44e-02 |
| MARK1 | GO:0045837 | negative regulation of membrane potential | 2.44e-02 |
| MARK1 | GO:0030900 | forebrain development | 2.44e-02 |
| MARK1 | GO:1902902 | negative regulation of autophagosome assembly | 2.44e-02 |
| MARK1 | GO:0007018 | microtubule-based movement | 2.44e-02 |
| MARK1 | GO:1900452 | regulation of long-term synaptic depression | 2.44e-02 |
| MARK1 | GO:0007409 | axonogenesis | 2.44e-02 |
| MARK1 | GO:0010975 | regulation of neuron projection development | 2.44e-02 |
| MARK1 | GO:0032930 | positive regulation of superoxide anion generation | 2.44e-02 |
| MARK1 | GO:1900034 | regulation of cellular response to heat | 2.44e-02 |
| MARK1 | GO:0051656 | establishment of organelle localization | 2.44e-02 |
| MARK1 | GO:0048311 | mitochondrion distribution | 2.44e-02 |
| MARK1 | GO:0032928 | regulation of superoxide anion generation | 2.64e-02 |
| MARK1 | GO:0010288 | response to lead ion | 2.67e-02 |
| MARK1 | GO:0070584 | mitochondrion morphogenesis | 2.67e-02 |
| MARK1 | GO:0090043 | regulation of tubulin deacetylation | 2.67e-02 |
| MARK1 | GO:1902473 | regulation of protein localization to synapse | 2.72e-02 |
| MARK1 | GO:0090042 | tubulin deacetylation | 2.76e-02 |
| MARK1 | GO:0070841 | inclusion body assembly | 2.81e-02 |
| MARK1 | GO:0048143 | astrocyte activation | 2.85e-02 |
| MARK1 | GO:0090218 | positive regulation of lipid kinase activity | 2.89e-02 |
| MARK1 | GO:0021846 | cell proliferation in forebrain | 2.93e-02 |
| MARK1 | GO:0090140 | regulation of mitochondrial fission | 3.02e-02 |
| MARK1 | GO:0034063 | stress granule assembly | 3.02e-02 |
| MARK1 | GO:0090322 | regulation of superoxide metabolic process | 3.02e-02 |
| MARK1 | GO:0016242 | negative regulation of macroautophagy | 3.02e-02 |
| MARK1 | GO:0031116 | positive regulation of microtubule polymerization | 3.02e-02 |
| MARK1 | GO:0060292 | long-term synaptic depression | 3.02e-02 |
| MARK1 | GO:0090311 | regulation of protein deacetylation | 3.20e-02 |
| MARK1 | GO:0021799 | cerebral cortex radially oriented cell migration | 3.20e-02 |
| MARK1 | GO:0031112 | positive regulation of microtubule polymerization or depolymerization | 3.20e-02 |
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Related Drugs to HDAC1_MARK1 |
| 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 HDAC1-MARK1 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 HDAC1_MARK1 |
| 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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