ASXL1 - ASXL transcriptional regulator 1 Gene
Also Known as MDS; BOPS
Species: Homo sapiens
About ASXL1
This gene has 26 transcripts (splice variants), 216 orthologues, 2 paralogues and is associated with 150 phenotypes. Ubiquitous expression in testis (RPKM 13.2), lymph node (RPKM 9.6) and 25 other tissues.
Summary
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]
ASXL1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001164603.1 | NP_001158075.1 | polycomb group protein ASXL1 isoform 2 |
| NM_001363734.1 | NP_001350663.1 | polycomb group protein ASXL1 isoform 3 |
| NM_015338.6 | NP_056153.2 | polycomb group protein ASXL1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16606617 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of PR-DUB complex |
IDA
IDA: Inferred from direct assay
|
20436459 | GOA |
| part of PR-DUB complex |
IPI
IPI: Inferred from physical interaction
|
20436459 | GOA |
ASXL1 Protein Structure
HARE-HTH: HB1, ASXL, restriction endonuclease HTH domain (12 - 83)
ASXH: Asx homology domain (234 - 362)
PHD_3: PHD domain of transcriptional enhancer, Asx (1480 - 1539)
- 0
- 300
- 600
- 900
- 1200
- 1541 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
polycomb group protein ASXL1 |
|
ASXL1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ASXL1 | Q8IXJ9 | BAP1 | Homo sapiens | Q92560 | 22897849 | |
|
Intra
|
ASXL1 | Q8IXJ9 | BAP1 | Homo sapiens | Q92560 | 27705803 | |
|
Intra
|
ASXL1 | Q8IXJ9 | BAP1 | Homo sapiens | Q92560 | 22897849 | |
|
Intra
|
ASXL1 | Q8IXJ9 | AKT1 | Homo sapiens | P31749 | 18624398 | |
|
Intra
|
ASXL1 | Q8IXJ9 | AKT1 | Homo sapiens | P31749 | 18624398 | |
|
Cross
|
ASXL1 | Q8IXJ9 | Rxra | Mus musculus | P28700 | 16606617 | |
|
Intra
|
ASXL1 | Q8IXJ9 | EZH2 | Homo sapiens | Q15910 | 22897849 | |
|
Intra
|
ASXL1 | Q8IXJ9 | EZH2 | Homo sapiens | Q15910 | 22897849 | |
|
Intra
|
ASXL1 | Q8IXJ9 | GOLGA6L9 | Homo sapiens | A6NEM1 | 32296183 | |
|
Intra
|
ASXL1 | Q8IXJ9 | GOLGA6L9 | Homo sapiens | A6NEM1 | 32296183 | |
|
Intra
|
ASXL1 | Q8IXJ9 | ESR1 | Homo sapiens | P03372 | 16606617 | |
|
Intra
|
ASXL1 | Q8IXJ9 | ESR1 | Homo sapiens | P03372 | 16606617 | |
|
Intra
|
ASXL1 | Q8IXJ9 | EED | Homo sapiens | O75530 | 22897849 | |
|
Cross
|
ASXL1 | Q8IXJ9 | THRB | Gallus gallus | P68306 | 16606617 | |
|
Cross
|
ASXL1 | Q8IXJ9 | THRB | Gallus gallus | P68306 | 16606617 |
Recombinant ASXL1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7614 | ASXL1 Protein, Human (GST) | Q8IXJ9-1 (K1477-R1541) | ≥ 80%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Bohring-Opitz Syndrome |
|
|
| Myelodysplastic Syndrome |
|
|
| Aggressive Systemic Mastocytosis |
|
|
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
|
| Hypertrichosis |
|
|
| Juvenile Myelomonocytic Leukemia |
|
|
| Microcephaly |
|
|
| Chronic Myelomonocytic Leukemia |
|
|
| Rubinstein Taybi Like Syndrome |
|
|
| Refractory Anemia With Excess Blasts |
|
|
| Refractory Anemia |
|
|
| Refractory Cytopenia With Multilineage Dysplasia |
|
|
| Mastocytosis, Cutaneous |
|
|
| Exophthalmos |
|
|
| Mastocytosis |
|
|
| Autism Spectrum Disorder |
|
|
| Myelodysplastic/Myeloproliferative Neoplasm |
|
|
| Myeloid Leukemia |
|
|
| Leukemia |
|
|
| Myelophthisic Anemia |
|
|
| Thrombocytosis |
|
|
| Myelofibrosis |
|
|
| Polycythemia Vera |
|
|
| Immunodeficiency 21 |
|
|
| Bainbridge-Ropers Syndrome |
|
|
| Chronic Leukemia |
|
|
| Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative |
|
|
| Sm-Ahnmd |
|
|
| Chronic Neutrophilic Leukemia |
|
|
| Diamond-Blackfan Anemia 11 |
|
|
| Indolent Systemic Mastocytosis |
|
|
| Chronic Eosinophilic Leukemia |
|
|
| Bone Marrow Cancer |
|
|
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
|
| Acute Myeloid Leukemia With Bcr-Abl1 |
|
|
| Extracutaneous Mastocytoma |
|
|
| Mast-Cell Sarcoma |
|
|
| Systemic Mastocytosis |
|
|
| Core Binding Factor Acute Myeloid Leukemia |
|
|
| Autosomal Dominant Intellectual Developmental Disorder 8 |
|
|
| Patau Syndrome |
|
|
| Essential Thrombocythemia |
|
|
| Vexas Syndrome |
|
|
| Mast Cell Neoplasm |
|
|
| Wernicke Encephalopathy |
|
|
| Myeloproliferative Neoplasm |
|
|
| Blood Platelet Disease |
|
|
| Hematuria, Benign Familial |
|
|
| Severe Congenital Neutropenia |
|
|
| Leukemia, Acute Myeloid |
|
|
| Shwachman-Diamond Syndrome 1 |
|
|
| Rasopathy |
|
|
| Aplastic Anemia |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Melanoma, Uveal |
|
|
| Deficiency Anemia |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Dyskeratosis Congenita |
|
|
| Diamond-Blackfan Anemia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | ASXL1 | VGNC | VGNC:26228 |
| Canis familiaris | ASXL1 | VGNC | VGNC:38196 |
| Macaca mulatta | ASXL1 | VGNC | VGNC:70095 |
| Rattus norvegicus | ASXL1 | RGD | RGD:1561878 |
| Felis catus | ASXL1 | VGNC | VGNC:59984 |
| Mus musculus | ASXL1 | MGD | MGI:2684063 |
| Others | ASXL1 | NCBI |