Protein:ASH2L |
Protein Summary |
 Gene summary |
| Gene name: ASH2L | ASpdb.0 ID: 9070 | Gene | Gene symbol | ASH2L | Gene ID | 9070 |
| Gene name | ASH2 like, histone lysine methyltransferase complex subunit |
| Synonyms | ASH2|ASH2L1|ASH2L2|Bre2 |
| Cytomap | 8p11.23 |
| Type of gene | protein-coding |
| Description | set1/Ash2 histone methyltransferase complex subunit ASH2ASH2-like proteinash2 (absent, small, or homeotic)-like |
| Modification date | 20240407 |
| UniProtAcc | Q9UBL3 |
| Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Gene | ASH2L | GO:0000976 | transcription cis-regulatory region binding | 16603732 |
| Gene | ASH2L | GO:0005634 | nucleus | 15199122|17500065|18245475 |
| Gene | ASH2L | GO:0006974 | DNA damage response | 17500065 |
| Gene | ASH2L | GO:0035097 | histone methyltransferase complex | 17355966|17500065|19556245 |
| Gene | ASH2L | GO:0043627 | response to estrogen | 16603732 |
| Gene | ASH2L | GO:0044666 | MLL3/4 complex | 17500065 |
| Gene | ASH2L | GO:0045815 | transcription initiation-coupled chromatin remodeling | 19556245 |
| Gene | ASH2L | GO:0048188 | Set1C/COMPASS complex | 17998332|18838538 |
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 |
| Q9UBL3-1 | Q9UBL3-1_6pwv_D.pdb | 6PWV | EM | 6.2 | D | 272 | 628 |
| 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 |
| Q9UBL3 | ASH2L | Q9UBL3-1 | Q9UBL3-2 | 628 | 501 | 1 | 94 | Deletion | none | none | 0 | 0 |
| Q9UBL3 | ASH2L | Q9UBL3-1 | Q9UBL3-2 | 628 | 501 | 541 | 573 | Deletion | none | none | 446 | 446 |
| Q9UBL3 | ASH2L | Q9UBL3-1 | Q9UBL3-3 | 628 | 534 | 1 | 94 | Deletion | none | none | 0 | 0 |
| Multiple sequence alignment of our canonical and alternatively spliced ASH2L |
| Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of ASH2L |
| UniProt-id | ENSG | ENST | ENSP |
| Q9UBL3-1 | ENSG00000129691.16 | ENST00000343823.11 | ENSP00000340896.5 |
| Q9UBL3-2 | ENSG00000129691.16 | ENST00000521652.5 | ENSP00000430259.1 |
| Q9UBL3-3 | ENSG00000129691.16 | ENST00000428278.6 | ENSP00000395310.2 |
| UniProt-id | NM ID | NP ID |
| Q9UBL3-1 | NM_004674.4 | NP_004665.2 |
| Q9UBL3-2 | NM_001261832.1 | NP_001248761.1 |
| Q9UBL3-3 | NM_001105214.2 | NP_001098684.1 |
| Amino acid sequences of our canonical and alternatively spliced ASH2L |
| accession_id | Protein sequence |
| Q9UBL3-1 | MAAAGAGPGQEAGAGPGPGAVANATGAEEGEMKPVAAGAAAPPGEGISAAPTVEPSSGEAEGGEANLVDVSGGLETESSNGKDTLEGAGD TSEVMDTQAGSVDEENGRQLGEVELQCGICTKWFTADTFGIDTSSCLPFMTNYSFHCNVCHHSGNTYFLRKQANLKEMCLSALANLTWQS RTQDEHPKTMFSKDKDIIPFIDKYWECMTTRQRPGKMTWPNNIVKTMSKERDVFLVKEHPDPGSKDPEEDYPKFGLLDQDLSNIGPAYDN QKQSSAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILAEPDPHAPDPEKLEL DCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAARLGWSQPLGNLQAP LGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFVDKAEKSLKQTPHSE |
| Q9UBL3-2 | MDTQAGSVDEENGRQLGEVELQCGICTKWFTADTFGIDTSSCLPFMTNYSFHCNVCHHSGNTYFLRKQANLKEMCLSALANLTWQSRTQD EHPKTMFSKDKDIIPFIDKYWECMTTRQRPGKMTWPNNIVKTMSKERDVFLVKEHPDPGSKDPEEDYPKFGLLDQDLSNIGPAYDNQKQS SAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILAEPDPHAPDPEKLELDCWA GKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAARLGWSQPLGNLQAPLGYD KFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFVDKAEKSLKQTPHSEVSIN |
| Q9UBL3-3 | MDTQAGSVDEENGRQLGEVELQCGICTKWFTADTFGIDTSSCLPFMTNYSFHCNVCHHSGNTYFLRKQANLKEMCLSALANLTWQSRTQD EHPKTMFSKDKDIIPFIDKYWECMTTRQRPGKMTWPNNIVKTMSKERDVFLVKEHPDPGSKDPEEDYPKFGLLDQDLSNIGPAYDNQKQS SAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILAEPDPHAPDPEKLELDCWA GKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAARLGWSQPLGNLQAPLGYD KFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFVDKAEKSLKQTPHSEIIFY |
Protein Functional Features |
| Main function of this protein. (from UniProt) |
| ASH2L (go to UniProt):Q9UBL3 |
| 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 |
| Q9UBL3 | Domain | 360 | 583 | Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00548 | Type=Deletion;Start=541;End=573 |
| Q9UBL3 | Zinc finger | 1 | 66 | Note=PHD-type%3B atypical | Type=Deletion;Start=1;End=94 |
| Q9UBL3 | Zinc finger | 1 | 66 | Note=PHD-type%3B atypical | Type=Deletion;Start=1;End=94 |
| Q9UBL3 | Region | 1 | 107 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=1;End=94 |
| Q9UBL3 | Region | 1 | 107 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=1;End=94 |
| Q9UBL3 | Region | 67 | 177 | Note=DNA-binding | Type=Deletion;Start=1;End=94 |
| Q9UBL3 | Region | 67 | 177 | Note=DNA-binding | Type=Deletion;Start=1;End=94 |
| Q9UBL3 | Region | 316 | 628 | Note=Interaction with RBBP5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220120;Dbxref=PMID:21220120 | Type=Deletion;Start=541;End=573 |
| Q9UBL3 | Compositional bias | 72 | 86 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=1;End=94 |
| Q9UBL3 | Compositional bias | 72 | 86 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=1;End=94 |
Gene Isoform Structures and Expression Levels for ASH2L |
| Gene structures of our canonical and alternative spliced genes of ASH2L * 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 Q9UBL3-1 |
| 3D view using mol* of Q9UBL3-2 |
| 3D view using mol* of Q9UBL3-3 |
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 Q9UBL3-1 |
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| pLDDT distribution across the protein length of Q9UBL3-2 |
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| pLDDT distribution across the protein length of Q9UBL3-3 |
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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 Q9UBL3-1 |
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| Ramachandran plot of Q9UBL3-3 |
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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 |
| Q9UBL3-1 | 1.074 | 177 | 1.057 | 582.757 | 0.528 | 0.808 | 0.963 | 0.454 | 1.128 | 0.403 | 0.688 | 329,330,337,342,343,344,345,375,376,377,378,380,38 2,384,385,386,387,398,412,413,414,415,417,442,443, 444,456,497,498,501,502,503,504,506,522,525,528,52 9,532,533,534,559,560,561,563,597,601,604,605 |
| Q9UBL3-2 | 1.077 | 336 | 1.062 | 976.521 | 0.44 | 0.813 | 1.061 | 0.707 | 1.123 | 0.63 | 0.767 | 236,243,248,249,250,251,281,282,283,289,290,291,29 2,293,304,316,317,318,319,320,321,322,323,324,327, 329,345,346,347,348,349,350,357,361,362,364,396,39 8,399,402,404,407,409,410,412,428,429,430,431,434, 435,438,439,440,441,442,443,444,445,446,447,449,45 1,465,467,470,473,474,477,478 |
| Q9UBL3-3 | 1.068 | 316 | 1.076 | 814.968 | 0.459 | 0.799 | 1.035 | 0.776 | 1.053 | 0.736 | 0.744 | 24,25,37,38,41,50,52,57,58,59,61,62,63,64,65,66,67 ,68,116,117,174,225,226,228,229,230,231,235,237,25 1,252,253,254,255,256,261,262,264,265,266,267,268, 269,270,271,272,274,279,280,284,419,421,422,423,42 4 |
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 Q9UBL3-1_Q9UBL3-1_6pwv_D.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of Q9UBL3-1_6pwv_D_Q9UBL3-2.pdb |
| 3D view using mol* of Q9UBL3-1_6pwv_D_Q9UBL3-3.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of Q9UBL3-1_Q9UBL3-2.pdb |
| 3D view using mol* of Q9UBL3-1_Q9UBL3-3.pdb |
| Protein Feature Comparison of the protein sequendary structures among the protiens. |
| ./stats/secondary_structure/figure/Q9UBL3-1_vs_Q9UBL3-2.png |
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| ./stats/secondary_structure/figure/Q9UBL3-1_vs_Q9UBL3-3.png |
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| Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens. |
| ./stats/relative_asa/Q9UBL3-1_vs_Q9UBL3-2.png |
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| ./stats/relative_asa/Q9UBL3-1_vs_Q9UBL3-3.png |
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Protein-Protein Interaction |
| Interactors from UniProt. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| Q9UBL3 | Region | 316 | 628 | Note=Interaction with RBBP5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220120;Dbxref=PMID:21220120 | Type=Deletion;Start=541;End=573 |
| Interactors from STRING. |
| Gene name | Interactors |
Related Drugs to ASH2L |
| Drugs targeting this gene/protein. (DrugBank) |
| UniProt accession | Gene name | DrugBank ID | Drug name | Drug group | Actions |
Related Diseases to ASH2L |
| Previous studies relating to the alternative splicing of ASH2L and disease information from the MeSH term (PubMed) |
| Gene | PMID | Title | Abstract | MeSH ID | MeSH term |
| ASH2L | 11466562 | ASH2L: alternative splicing and downregulation during induced megakaryocytic differentiation of multipotential leukemia cell lines. | Abstract Drosophila ash2 is a member of the trxG gene super family, some human homologues of which are involved in hematopoiesis and leukemia. We report here the identification of the human homologue of Drosophila ash2 and its alternative splicing isoform, ASH2L1 and ASH2L2. ASH2L proteins are 60% homologous to Drosophila ash2. ASH2L also has a zinc finger motif (C2C2) although it is not identical to that in ASH2. Expression profile analysis showed that the amount of ASH2L transcripts is extremely high in fetal liver, testis, and leukemia cell lines with erythroid and megakaryocytic potential such as K562, Hel, and Dami. We treated these cells with differentiation inducers phorbol ester and hemin. We found that ASH2L is downregulated rapidly and dramatically in K562, Hel, and Dami cells during phorbol ester induced differentiation with megakaryocytic features. However, its expression is maintained at a high level during erythroid differentiation of K562 cells induced with hemin. These results suggest that ASH2L plays a role in hematopoiesis and is associated with some special kinds of leukemia. | D007938 | Leukemia |
Clinically important variants in ASH2L |
| (ClinVar, 04/20/2024) |
| accession_id | uniprot_id | gene_name | Type | Variant | Clinical_significance |
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