ID:ASXL1_HUMAN DESCRIPTION: RecName: Full=Putative Polycomb group protein ASXL1; AltName: Full=Additional sex combs-like protein 1; FUNCTION: 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). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor through recruitment of KDM1A and CBX5 to target genes in a cell-type specific manner; the function seems to involve differential recruitment of methylated histone H3 to respective promoters. Acts as 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). SUBUNIT: Component of the PR-DUB complex, at least composed of BAP1 and ASXL1. Interacts with RARA, RXRA, NCOA1, KDM1A and CBX5. Interacts with PPARA, PPARG, CBX1 and CBX3 (By similarity). INTERACTION: P31749:AKT1; NbExp=2; IntAct=EBI-1646500, EBI-296087; P45973:CBX5; NbExp=2; IntAct=EBI-1646500, EBI-78219; P03372:ESR1; NbExp=2; IntAct=EBI-1646500, EBI-78473; O60341:KDM1A; NbExp=2; IntAct=EBI-1646500, EBI-710124; P10276:RARA; NbExp=3; IntAct=EBI-1646500, EBI-413374; P28700:Rxra (xeno); NbExp=2; IntAct=EBI-1646500, EBI-346715; P68306:THRB (xeno); NbExp=2; IntAct=EBI-1646500, EBI-5743841; SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Widely expressed at low level. Expressed in heart, brain, skeletal muscle, placenta, pancreas, spleen, prostate, small intestine, colon, peripheral blood, leukocytes, bone marrow and fetal liver. Highly expressed in testes. DOMAIN: Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, which may be required for an association with nuclear receptors. DISEASE: Defects in ASXL1 are the cause of Bohring-Opitz syndrome (BOPS) [MIM:605039]. A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints. DISEASE: Defects in ASXL1 are a cause of myelodysplastic syndrome (MDS) [MIM:614286]. A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). SIMILARITY: Belongs to the Asx family. SIMILARITY: Contains 1 PHD-type zinc finger.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8IXJ9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003677 DNA binding GO:0003713 transcription coactivator activity GO:0005515 protein binding GO:0042974 retinoic acid receptor binding GO:0042975 peroxisome proliferator activated receptor binding GO:0046872 metal ion binding
Biological Process: GO:0000902 cell morphogenesis GO:0003007 heart morphogenesis GO:0006325 chromatin organization GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0009887 animal organ morphogenesis GO:0016579 protein deubiquitination GO:0030097 hemopoiesis GO:0032526 response to retinoic acid GO:0035359 negative regulation of peroxisome proliferator activated receptor signaling pathway GO:0035522 monoubiquitinated histone H2A deubiquitination GO:0045599 negative regulation of fat cell differentiation GO:0045944 positive regulation of transcription from RNA polymerase II promoter 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
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
