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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
20
Cytoband
q11.21
Chromosome location (bp)
32358330 - 32439319
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) 1. Acts as a coactivator of RARA and RXRA through association with NCOA1 2. Acts as a corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) 3,4,5. Acts as a sensor of N(6)-methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing 6. The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signaling, cell proliferation and cell viability 7,8. ASXL1, ASXL2 and ASXL3 function redundantly in the PR-DUB complex (By similarity) 9. The ASXL proteins are essential for chromatin recruitment and transcriptional activation of associated genes (By similarity). ASXL1 and ASXL2 are important for BAP1 protein stability 10. Together with BAP1, negatively regulates epithelial-mesenchymal transition (EMT) of trophoblast stem cells during placental development by regulating genes involved in epithelial cell integrity, cell adhesion and cytoskeletal organization 11....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q76L82 [Direct mapping] Additional sex combs like 1 (Drosophila), isoform CRA_d; Polycomb group protein; Polycomb group protein ASXL1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Q8IXJ9 [Direct mapping] Polycomb group protein ASXL1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000902[cell morphogenesis] GO:0003007[heart morphogenesis] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0009887[animal organ morphogenesis] GO:0030097[hemopoiesis] GO:0032526[response to retinoic acid] GO:0035359[negative regulation of peroxisome proliferator activated receptor signaling pathway] GO:0035517[PR-DUB complex] GO:0035522[monoubiquitinated histone H2A deubiquitination] GO:0035564[regulation of kidney size] GO:0042974[nuclear retinoic acid receptor binding] GO:0042975[peroxisome proliferator activated receptor binding] GO:0045599[negative regulation of fat cell differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048386[positive regulation of retinoic acid receptor signaling pathway] GO:0048534[hematopoietic or lymphoid organ development] GO:0048538[thymus development] GO:0048539[bone marrow development] GO:0048872[homeostasis of number of cells] GO:0060348[bone development] GO:0060430[lung saccule development] GO:0072015[podocyte development]
Q5JWS8 [Direct mapping] Polycomb group protein ASXL1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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GO:0006355[regulation of DNA-templated transcription]
H0YJC9 [Direct mapping] Polycomb group protein ASXL1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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GO:0006355[regulation of DNA-templated transcription]
Q8IXJ9 [Direct mapping] Polycomb group protein ASXL1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0009887[animal organ morphogenesis] GO:0032526[response to retinoic acid] GO:0035359[negative regulation of peroxisome proliferator activated receptor signaling pathway] GO:0035517[PR-DUB complex] GO:0035522[monoubiquitinated histone H2A deubiquitination] GO:0042974[nuclear retinoic acid receptor binding] GO:0042975[peroxisome proliferator activated receptor binding] GO:0045599[negative regulation of fat cell differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048386[positive regulation of retinoic acid receptor signaling pathway]
Q8IXJ9 [Direct mapping] Polycomb group protein ASXL1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0009887[animal organ morphogenesis] GO:0032526[response to retinoic acid] GO:0035359[negative regulation of peroxisome proliferator activated receptor signaling pathway] GO:0035517[PR-DUB complex] GO:0035522[monoubiquitinated histone H2A deubiquitination] GO:0042974[nuclear retinoic acid receptor binding] GO:0042975[peroxisome proliferator activated receptor binding] GO:0045599[negative regulation of fat cell differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048386[positive regulation of retinoic acid receptor signaling pathway]
A0A2R8Y627 [Direct mapping] Polycomb group protein ASXL1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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GO:0006355[regulation of DNA-templated transcription]
A0A2R8Y6V0 [Direct mapping] Polycomb group protein ASXL1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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GO:0006355[regulation of DNA-templated transcription]
Q498B9 [Direct mapping] ASXL1 protein; Polycomb group protein ASXL1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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GO:0006355[regulation of DNA-templated transcription]
A0A2R8Y5U1 [Direct mapping] Polycomb group protein ASXL1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
A0A494C1R1 [Direct mapping] Polycomb group protein ASXL1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
