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Fusion Protein:ACE2-GPR143 |
Fusion Gene and Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: ACE2-GPR143 | FusionPDB ID: 1276 | FusionGDB2.0 ID: 1276 | Hgene | Tgene | Gene symbol | ACE2 | GPR143 | Gene ID | 59272 | 4935 |
Gene name | angiotensin I converting enzyme 2 | G protein-coupled receptor 143 | |
Synonyms | ACEH | NYS6|OA1 | |
Cytomap | Xp22.2 | Xp22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | angiotensin-converting enzyme 2ACE-related carboxypeptidaseangiotensin I converting enzyme (peptidyl-dipeptidase A) 2angiotensin-converting enzyme homologmetalloprotease MPROT15peptidyl-dipeptidase A | G-protein coupled receptor 143ocular albinism 1ocular albinism type 1 protein | |
Modification date | 20200322 | 20200313 | |
UniProtAcc | Q9BYF1 Main function of 5'-partner protein: FUNCTION: Essential counter-regulatory carboxypeptidase of the renin-angiotensin hormone system that is a critical regulator of blood volume, systemic vascular resistance, and thus cardiovascular homeostasis (PubMed:27217402). Converts angiotensin I to angiotensin 1-9, a nine-amino acid peptide with anti-hypertrophic effects in cardiomyocytes, and angiotensin II to angiotensin 1-7, which then acts as a beneficial vasodilator and anti-proliferation agent, counterbalancing the actions of the vasoconstrictor angiotensin II (PubMed:10969042, PubMed:10924499, PubMed:11815627, PubMed:19021774, PubMed:14504186). Also removes the C-terminal residue from three other vasoactive peptides, neurotensin, kinetensin, and des-Arg bradykinin, but is not active on bradykinin (PubMed:10969042, PubMed:11815627). Also cleaves other biological peptides, such as apelins (apelin-13, [Pyr1]apelin-13, apelin-17, apelin-36), casomorphins (beta-casomorphin-7, neocasomorphin) and dynorphin A with high efficiency (PubMed:11815627, PubMed:27217402, PubMed:28293165). In addition, ACE2 C-terminus is homologous to collectrin and is responsible for the trafficking of the neutral amino acid transporter SL6A19 to the plasma membrane of gut epithelial cells via direct interaction, regulating its expression on the cell surface and its catalytic activity (PubMed:18424768, PubMed:19185582). {ECO:0000269|PubMed:10924499, ECO:0000269|PubMed:10969042, ECO:0000269|PubMed:11815627, ECO:0000269|PubMed:14504186, ECO:0000269|PubMed:18424768, ECO:0000269|PubMed:19021774, ECO:0000269|PubMed:19185582, ECO:0000269|PubMed:27217402}.; FUNCTION: [Isoform 2]: Non-functional as a carboxypeptidase. {ECO:0000269|PubMed:33077916}.; FUNCTION: (Microbial infection) Acts as a receptor for human coronaviruses SARS-CoV and SARS-CoV-2, as well as human coronavirus NL63/HCoV-NL63. {ECO:0000269|PubMed:14647384, ECO:0000269|PubMed:15452268, ECO:0000269|PubMed:15791205, ECO:0000269|PubMed:15897467, ECO:0000269|PubMed:24227843, ECO:0000269|PubMed:32142651, ECO:0000269|PubMed:32155444, ECO:0000269|PubMed:32221306, ECO:0000269|PubMed:32225175, ECO:0000269|PubMed:33000221, ECO:0000269|PubMed:33082294, ECO:0000269|PubMed:33432067}.; FUNCTION: [Isoform 2]: (Microbial infection) Non-functional as a receptor for human coronavirus SARS-CoV-2. {ECO:0000269|PubMed:33077916, ECO:0000269|PubMed:33432184}. | P51810 Main function of 5'-partner protein: FUNCTION: Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand-dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport. {ECO:0000269|PubMed:10471510, ECO:0000269|PubMed:16524428, ECO:0000269|PubMed:18697795, ECO:0000269|PubMed:18828673, ECO:0000269|PubMed:19717472}. | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000252519, ENST00000427411, ENST00000471548, | ENST00000487206, ENST00000467482, ENST00000380929, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 1 X 1 X 1=1 | 4 X 4 X 4=64 |
# samples | 1 | 5 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(5/64*10)=-0.356143810225275 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Fusion gene context | PubMed: ACE2 [Title/Abstract] AND GPR143 [Title/Abstract] AND fusion [Title/Abstract] | ||
Fusion neoantigen context | PubMed: ACE2 [Title/Abstract] AND GPR143 [Title/Abstract] AND neoantigen [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ACE2(15596212)-GPR143(9693880), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | ACE2-GPR143 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ACE2-GPR143 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ACE2-GPR143 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ACE2-GPR143 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ACE2-GPR143 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ACE2-GPR143 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. ACE2-GPR143 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ACE2 | GO:0046813 | receptor-mediated virion attachment to host cell | 18343844 |
Tgene | GPR143 | GO:0007186 | G protein-coupled receptor signaling pathway | 16524428 |
Tgene | GPR143 | GO:0032400 | melanosome localization | 19717472 |
Tgene | GPR143 | GO:0032402 | melanosome transport | 19717472 |
Tgene | GPR143 | GO:0035584 | calcium-mediated signaling using intracellular calcium source | 18828673 |
Tgene | GPR143 | GO:0048015 | phosphatidylinositol-mediated signaling | 16524428 |
Tgene | GPR143 | GO:0050848 | regulation of calcium-mediated signaling | 18828673 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chrX:15596212/chrX:9693880) - 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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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Amino Acid Sequences |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000252519 | ACE2 | chrX | 15596212 | - | ENST00000380929 | GPR143 | chrX | 9693880 | - | 1827 | 1400 | 103 | 1494 | 463 |
ENST00000427411 | ACE2 | chrX | 15596212 | - | ENST00000467482 | GPR143 | chrX | 9693880 | - | 2009 | 1514 | 217 | 1608 | 463 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000252519 | ENST00000380929 | ACE2 | chrX | 15596212 | - | GPR143 | chrX | 9693880 | - | 0.000304618 | 0.9996954 |
ENST00000427411 | ENST00000467482 | ACE2 | chrX | 15596212 | - | GPR143 | chrX | 9693880 | - | 0.000228373 | 0.99977165 |
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Get the fusion protein sequences from here. |
Fusion protein sequence information is available in the fasta format. >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP |
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Fusion Protein Breakpoint Sequences for ACE2-GPR143 |
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Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Length(fusion protein) | BP in fusion protein | Peptide |
ACE2 | chrX | 15596212 | GPR143 | chrX | 9693880 | 1400 | 432 | SIGLLSPDFQEDNGSDASTIEIHTAS |
ACE2 | chrX | 15596212 | GPR143 | chrX | 9693880 | 1514 | 432 | SIGLLSPDFQEDNGSDASTIEIHTAS |
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Potential FusionNeoAntigen Information of ACE2-GPR143 in HLA I |
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ACE2-GPR143_15596212_9693880.msa |
![]() * We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5) |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA I | FusionNeoAntigen peptide | Binding score | Immunogenic score | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
ACE2-GPR143 | chrX | 15596212 | chrX | 9693880 | 1400 | HLA-B39:08 | QEDNGSDASTI | 0.9892 | 0.887 | 9 | 20 |
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Potential FusionNeoAntigen Information of ACE2-GPR143 in HLA II |
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![]() * We used NetMHCIIpan v4.1 (%rank<0.5). |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA II | FusionNeoAntigen peptide | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
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Fusion breakpoint peptide structures of ACE2-GPR143 |
![]() * The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA. |
File name | BPseq | Hgene | Tgene | Hchr | Hbp | Tchr | Tbp | AAlen |
6537 | PDFQEDNGSDASTI | ACE2 | GPR143 | chrX | 15596212 | chrX | 9693880 | 1400 |
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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ACE2-GPR143 |
![]() * We used Glide to predict the interaction between HLAs and neoantigens. |
HLA allele | PDB ID | File name | BPseq | Docking score | Glide score |
HLA-B14:02 | 3BVN | 6537 | PDFQEDNGSDASTI | -6.18902 | -6.30242 |
HLA-B14:02 | 3BVN | 6537 | PDFQEDNGSDASTI | -5.51674 | -6.55204 |
HLA-B52:01 | 3W39 | 6537 | PDFQEDNGSDASTI | -6.26372 | -6.37712 |
HLA-B52:01 | 3W39 | 6537 | PDFQEDNGSDASTI | -2.88933 | -3.92463 |
HLA-A11:01 | 4UQ2 | 6537 | PDFQEDNGSDASTI | -8.95966 | -9.99496 |
HLA-A24:02 | 5HGA | 6537 | PDFQEDNGSDASTI | -7.97421 | -8.08761 |
HLA-A24:02 | 5HGA | 6537 | PDFQEDNGSDASTI | -4.46014 | -5.49544 |
HLA-B44:05 | 3DX8 | 6537 | PDFQEDNGSDASTI | -4.21738 | -4.33078 |
HLA-B44:05 | 3DX8 | 6537 | PDFQEDNGSDASTI | -3.79801 | -4.83331 |
HLA-A02:01 | 6TDR | 6537 | PDFQEDNGSDASTI | -6.07498 | -7.11028 |
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Vaccine Design for the FusionNeoAntigens of ACE2-GPR143 |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide sequence | FusionNeoAntigen RNA sequence |
ACE2-GPR143 | chrX | 15596212 | chrX | 9693880 | 9 | 20 | QEDNGSDASTI | AAGAAGACAATGGTTCTGATGCCAGCACAATTG |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide | FusionNEoAntigen RNA sequence |
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Information of the samples that have these potential fusion neoantigens of ACE2-GPR143 |
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Cancer type | Fusion gene | Hchr | Hbp | Henst | Tchr | Tbp | Tenst | Sample |
COAD | ACE2-GPR143 | chrX | 15596212 | ENST00000252519 | chrX | 9693880 | ENST00000380929 | TCGA-AZ-6605-01A |
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Potential target of CAR-T therapy development for ACE2-GPR143 |
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![]() * Minus value of BPloci means that the break point is located before the CDS. |
- In-frame and retained 'Transmembrane'. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
![]() * We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image. |
Hgene | Hchr | Hbp | Henst | Tgene | Tchr | Tbp | Tenst | DeepLoc result |
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Related Drugs to ACE2-GPR143 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ACE2-GPR143 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |