Protein:GLI1 |
Protein Summary |
 Gene summary |
| Gene name: GLI1 | ASpdb.0 ID: 2735 | Gene | Gene symbol | GLI1 | Gene ID | 2735 |
| Gene name | GLI family zinc finger 1 |
| Synonyms | GLI|PAPA8|PPD1 |
| Cytomap | 12q13.3 |
| Type of gene | protein-coding |
| Description | zinc finger protein GLI1GLI-Kruppel family member GLI1glioma-associated oncogene 1glioma-associated oncogene homolog 1 (zinc finger protein)oncogene GLI |
| Modification date | 20240305 |
| UniProtAcc | P08151 |
| Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Gene | GLI1 | GO:0000976 | transcription cis-regulatory region binding | 17035233 |
| Gene | GLI1 | GO:0000977 | RNA polymerase II transcription regulatory region sequence-specific DNA binding | 18298960 |
| Gene | GLI1 | GO:0001649 | osteoblast differentiation | 12165851 |
| Gene | GLI1 | GO:0003677 | DNA binding | 9118802 |
| Gene | GLI1 | GO:0005634 | nucleus | 10806483|11238441|19878745 |
| Gene | GLI1 | GO:0005654 | nucleoplasm | - |
| Gene | GLI1 | GO:0005737 | cytoplasm | 24076122 |
| Gene | GLI1 | GO:0005737 | cytoplasm | 10504446|11238441|16229683|19878745 |
| Gene | GLI1 | GO:0005829 | cytosol | 18559511 |
| Gene | GLI1 | GO:0006355 | regulation of DNA-templated transcription | 24311597 |
| Gene | GLI1 | GO:0007224 | smoothened signaling pathway | 19878745|31279575 |
| Gene | GLI1 | GO:0009913 | epidermal cell differentiation | 12165851 |
| Gene | GLI1 | GO:0045740 | positive regulation of DNA replication | 12165851 |
| Gene | GLI1 | GO:0045880 | positive regulation of smoothened signaling pathway | 17035233 |
| Gene | GLI1 | GO:0045893 | positive regulation of DNA-templated transcription | 11238441|12165851|17035233 |
| Gene | GLI1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9118802|10693759 |
| Gene | GLI1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12165851|24076122 |
| Gene | GLI1 | GO:0060045 | positive regulation of cardiac muscle cell proliferation | 28583401 |
| Gene | GLI1 | GO:1902808 | positive regulation of cell cycle G1/S phase transition | 28583401 |
AS Summary |
| Information of the canonical protein with experimentally identified structure from PDB (2023). |
| UniProt Acc | File name | PDB ID | Method | Resolution | Chain | Start | End |
| P08151-1 | P08151-1_2gli_A.pdb | 2GLI | X-ray | 2.6 | A | 234 | 388 |
| ASpdb's canonical and alternatively spliced isoform information. |
| accession_id | gene_name | canonical_id | alternative_id | canonical_length | alternative_length | canonical_start | canonical_end | type | originalSEQ | variationSEQ | alternative_start | alternative_end |
| P08151 | GLI1 | P08151-1 | P08151-3 | 1106 | 978 | 1 | 128 | Deletion | none | none | 0 | 0 |
| Multiple sequence alignment of our canonical and alternatively spliced GLI1 |
| Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of GLI1 |
| UniProt-id | ENSG | ENST | ENSP |
| P08151-1 | ENSG00000111087.10 | ENST00000228682.7 | ENSP00000228682.2 |
| P08151-3 | ENSG00000111087.10 | ENST00000543426.5 | ENSP00000437607.1 |
| UniProt-id | NM ID | NP ID |
| P08151-1 | NM_005269.2 | NP_005260.1 |
| P08151-1 | XM_011538189.2 | XP_011536491.1 |
| P08151-3 | NM_001160045.1 | NP_001153517.1 |
| Amino acid sequences of our canonical and alternatively spliced GLI1 |
| accession_id | Protein sequence |
| P08151-1 | MFNSMTPPPISSYGEPCCLRPLPSQGAPSVGTEGLSGPPFCHQANLMSGPHSYGPARETNSCTEGPLFSSPRSAVKLTKKRALSISPLSD ASLDLQTVIRTSPSSLVAFINSRCTSPGGSYGHLSIGTMSPSLGFPAQMNHQKGPSPSFGVQPCGPHDSARGGMIPHPQSRGPFPTCQLK SELDMLVGKCREEPLEGDMSSPNSTGIQDPLLGMLDGREDLEREEKREPESVYETDCRWDGCSQEFDSQEQLVHHINSEHIHGERKEFVC HWGGCSRELRPFKAQYMLVVHMRRHTGEKPHKCTFEGCRKSYSRLENLKTHLRSHTGEKPYMCEHEGCSKAFSNASDRAKHQNRTHSNEK PYVCKLPGCTKRYTDPSSLRKHVKTVHGPDAHVTKRHRGDGPLPRAPSISTVEPKREREGGPIREESRLTVPEGAMKPQPSPGAQSSCSS DHSPAGSAANTDSGVEMTGNAGGSTEDLSSLDEGPCIAGTGLSTLRRLENLRLDQLHQLRPIGTRGLKLPSLSHTGTTVSRRVGPPVSLE RRSSSSSSISSAYTVSRRSSLASPFPPGSPPENGASSLPGLMPAQHYLLRARYASARGGGTSPTAASSLDRIGGLPMPPWRSRAEYPGYN PNAGVTRRASDPAQAADRPAPARVQRFKSLGCVHTPPTVAGGGQNFDPYLPTSVYSPQPPSITENAAMDARGLQEEPEVGTSMVGSGLNP YMDFPPTDTLGYGGPEGAAAEPYGARGPGSLPLGPGPPTNYGPNPCPQQASYPDPTQETWGEFPSHSGLYPGPKALGGTYSQCPRLEHYG QVQVKPEQGCPVGSDSTGLAPCLNAHPSEGPPHPQPLFSHYPQPSPPQYLQSGPYTQPPPDYLPSEPRPCLDFDSPTHSTGQLKAQLVCN YVQSQQELLWEGGGREDAPAQEPSYQSPKFLGGSQVSPSRAKAPVNTYGPGFGPNLPNHKSGSYPTPSPCHENFVVGANRASHRAAAPPR LLPPLPTCYGPLKVGGTNPSCGHPEVGRLGGGPALYPPPEGQVCNPLDSLDLDNTQLDFVAILDEPQGLSPPPSHDQRGSSGHTPPPSGP |
| P08151-3 | MSPSLGFPAQMNHQKGPSPSFGVQPCGPHDSARGGMIPHPQSRGPFPTCQLKSELDMLVGKCREEPLEGDMSSPNSTGIQDPLLGMLDGR EDLEREEKREPESVYETDCRWDGCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCSRELRPFKAQYMLVVHMRRHTGEKPHKCTFEGC RKSYSRLENLKTHLRSHTGEKPYMCEHEGCSKAFSNASDRAKHQNRTHSNEKPYVCKLPGCTKRYTDPSSLRKHVKTVHGPDAHVTKRHR GDGPLPRAPSISTVEPKREREGGPIREESRLTVPEGAMKPQPSPGAQSSCSSDHSPAGSAANTDSGVEMTGNAGGSTEDLSSLDEGPCIA GTGLSTLRRLENLRLDQLHQLRPIGTRGLKLPSLSHTGTTVSRRVGPPVSLERRSSSSSSISSAYTVSRRSSLASPFPPGSPPENGASSL PGLMPAQHYLLRARYASARGGGTSPTAASSLDRIGGLPMPPWRSRAEYPGYNPNAGVTRRASDPAQAADRPAPARVQRFKSLGCVHTPPT VAGGGQNFDPYLPTSVYSPQPPSITENAAMDARGLQEEPEVGTSMVGSGLNPYMDFPPTDTLGYGGPEGAAAEPYGARGPGSLPLGPGPP TNYGPNPCPQQASYPDPTQETWGEFPSHSGLYPGPKALGGTYSQCPRLEHYGQVQVKPEQGCPVGSDSTGLAPCLNAHPSEGPPHPQPLF SHYPQPSPPQYLQSGPYTQPPPDYLPSEPRPCLDFDSPTHSTGQLKAQLVCNYVQSQQELLWEGGGREDAPAQEPSYQSPKFLGGSQVSP SRAKAPVNTYGPGFGPNLPNHKSGSYPTPSPCHENFVVGANRASHRAAAPPRLLPPLPTCYGPLKVGGTNPSCGHPEVGRLGGGPALYPP |
Protein Functional Features |
| Main function of this protein. (from UniProt) |
| GLI1 (go to UniProt):P08151 |
| Retention analysis result of 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 protein feature among the 13 regional features. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| P08151 | Region | 1 | 20 | Note=SNAG domain;Ontology_term=ECO:0000250;evidence=ECO:0000250 | Type=Deletion;Start=1;End=128 |
| P08151 | Region | 120 | 124 | "Note=Interaction with SUFU;Ontology_term=ECO:0000269 | ECO:0000269;evidence=ECO:0000269|PubMed:24217340 |
Gene Isoform Structures and Expression Levels for GLI1 |
| Gene structures of our canonical and alternative spliced genes of GLI1 * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Expression levels of gene isoforms across GTEx. |
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| Expression levels of gene isoforms across TCGA. |
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Protein Structures |
| PDB and CIF files of the predicted protein structures * Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
| 3D view using mol* of P08151-1 |
| 3D view using mol* of P08151-3 |
pLDDT Score Distribution |
| pLDDT score distribution of the predicted protein structures from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
| pLDDT distribution across the protein length of P08151-1 |
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| pLDDT distribution across the protein length of P08151-3 |
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Ramachandran Plot of Protein Structures |
| Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide. |
| Ramachandran plot of P08151-1 |
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Potential Active Site Information |
| The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite. |
| UniProt-id | Site score | Size | D score | Volume | Exposure | Enclosure | Contact | Phobic | Philic | Balance | Don/Acc | Residues |
| P08151-1 | 0.992 | 239 | 1.035 | 774.837 | 0.614 | 0.645 | 0.856 | 0.636 | 0.896 | 0.709 | 0.788 | 226,227,228,229,230,231,233,249,250,251,253,254,25 7,293,298,299,300,301,302,304,305,307,308,309,310, 311,315,316,317,318,319,320,322,323,325,326,328,33 1,344,345,346,347,350,890,891,894,895,898,899,901, 902,903,905,906,909,910 |
| P08151-3 | 1.034 | 314 | 1.086 | 1322.608 | 0.644 | 0.679 | 0.845 | 0.637 | 0.802 | 0.795 | 0.709 | 134,135,136,138,140,149,152,154,155,156,157,158,15 9,161,162,163,165,166,169,171,172,173,182,183,184, 185,186,187,188,189,191,192,195,202,203,216,217,21 8,760,763,764,767,768,770,771,774,775,777,778,780, 781,914,915,916,917,918,919,920,921,922,924,925,92 6,927 |
Protein Structure and Feature Comparision |
| Protein Structure Comparision Using Template Modeling Scores (TM-score). |
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| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green) |
| 3D view using mol* of P08151-1_P08151-1_2gli_A.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of P08151-1_2gli_A_P08151-3.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of P08151-1_P08151-3.pdb |
| Protein Feature Comparison of the protein sequendary structures among the protiens. |
| ./stats/secondary_structure/figure/P08151-1_vs_P08151-3.png |
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| Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens. |
| ./stats/relative_asa/P08151-1_vs_P08151-3.png |
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Protein-Protein Interaction |
| Interactors from UniProt. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| P08151 | Region | 120 | 124 | "Note=Interaction with SUFU;Ontology_term=ECO:0000269 | ECO:0000269;evidence=ECO:0000269|PubMed:24217340 |
| Interactors from STRING. |
| Gene name | Interactors |
Related Drugs to GLI1 |
| Drugs targeting this gene/protein. (DrugBank) |
| UniProt accession | Gene name | DrugBank ID | Drug name | Drug group | Actions |
Related Diseases to GLI1 |
| Previous studies relating to the alternative splicing of GLI1 and disease information from the MeSH term (PubMed) |
| Gene | PMID | Title | Abstract | MeSH ID | MeSH term |
| GLI1 | 23324600 | RNA editing of the GLI1 transcription factor modulates the output of Hedgehog signaling. | The Hedgehog (HH) signaling pathway has important roles in tumorigenesis and in embryonal patterning. The Glioma-associated oncogene 1 (GLI1) is a key molecule in HH signaling, acting as a transcriptional effector and, moreover, is considered to be a potential therapeutic target for several types of cancer. To extend our previous focus on the implications of alternative splicing for HH signal transduction, we now report on an additional post-transcriptional mechanism with an impact on GLI1 activity, namely RNA editing. The GLI1 mRNA is highly edited at nucleotide 2179 by adenosine deamination in normal cerebellum, but the extent of this modification is reduced in cell lines from the cerebellar tumor medulloblastoma. Additionally, basal cell carcinoma tumor samples exhibit decreased GLI1 editing compared with normal skin. Interestingly, knocking down of either ADAR1 or ADAR2 reduces RNA editing of GLI1. This adenosine to inosine substitution leads to a change from Arginine to Glycine at position 701 that influences not only GLI1 transcriptional activity, but also GLI1-dependent cellular proliferation. Specifically, the edited GLI1, GLI1-701G, has a higher capacity to activate most of the transcriptional targets tested and is less susceptible to inhibition by the negative regulator of HH signaling suppressor of fused. However, the Dyrk1a kinase, implicated in cellular proliferation, is more effective in increasing the transcriptional activity of the non-edited GLI1. Finally, introduction of GLI1-701G into medulloblastoma cells confers a smaller increase in cellular growth relative to GLI1. In conclusion, our findings indicate that RNA editing of GLI1 is a regulatory mechanism that modulates the output of the HH signaling pathway. | D008527 | Medulloblastoma |
Clinically important variants in GLI1 |
| (ClinVar, 04/20/2024) |
| accession_id | uniprot_id | gene_name | Type | Variant | Clinical_significance |
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