AlphaFold predicted structure
ASXL1 · Q8IXJ9
Mean pLDDT
42.2/ 100
Very low
1,541 residues
Confidence breakdown
- Very high(≥ 90)3%
- Confident(70–90)9%
- Low(50–70)6%
- Very low(< 50)82%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ASXL1
Chr 20q11.21ASXL transcriptional regulator 1
- Aliases:
- KIAA0978
- MANE:
- ENST00000375687.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedClefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
Bohring-Opitz syndrome
0.80myelodysplastic syndrome
0.76acute myeloid leukemia
0.73myeloid neoplasm
0.66neoplasm
0.64myeloid leukemia
0.59hematopoietic and lymphoid system neoplasm
0.56lymphoid neoplasm
0.56hereditary disease
0.54nicotine dependence
0.53
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Polycomb group protein ASXL1
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) (PubMed:16606617). Acts as a coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). 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) (PubMed:20436459, PubMed:30664650, PubMed:36180891). Acts as a sensor of N(6)-methyladenine methylation on DNA (6mA): recognizes and binds 6mA DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing (PubMed:30982744). 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 (PubMed:30664650, PubMed:36180891). ASXL1, ASXL2 and ASXL3 function redundantly in the PR-DUB complex (By similarity) (PubMed:30664650). 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 (PubMed:30664650). 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 (PubMed:34170818)
Diseases associated with ASXL1
Curated MONDO disease pages that list ASXL1 among their top associated genes.