AlphaFold predicted structure
MSL3 · Q8N5Y2
Mean pLDDT
68.4/ 100
Low
521 residues
Confidence breakdown
- Very high(≥ 90)38%
- Confident(70–90)17%
- Low(50–70)6%
- Very low(< 50)39%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MSL3
Chr Xp22.2MSL complex subunit 3
- MANE:
- ENST00000312196.10
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Disease associations (Open Targets)
Basilicata-Akhtar syndrome
0.79hereditary disease
0.52Intellectual disability
0.50neurodegenerative disease
0.43Neurodevelopmental delay
0.37Hypotonia
0.37Feeding difficulties
0.37Global developmental delay
0.34Neurodevelopmental abnormality
0.33X-linked non-syndromic intellectual disability
0.12
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
MSL complex subunit 3
Non-catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at 'Lys-16' (H4K16ac), an epigenetic mark that prevents chromatin compaction (PubMed:16227571, PubMed:16543150, PubMed:20018852, PubMed:20657587, PubMed:20943666, PubMed:21217699, PubMed:30224647, PubMed:33837287). The MSL complex is required for chromosome stability and genome integrity by maintaining homeostatic levels of H4K16ac (PubMed:33837287). The MSL complex is also involved in gene dosage by promoting up-regulation of genes expressed by the X chromosome (By similarity). X up-regulation is required to compensate for autosomal biallelic expression (By similarity). The MSL complex also participates in gene dosage compensation by promoting expression of Tsix non-coding RNA (By similarity). Acts as a histone reader that specifically recognizes and binds histone H4 monomethylated at 'Lys-20' (H4K20Me1) in a DNA-dependent manner and is proposed to be involved in chromosomal targeting of the MSL complex (PubMed:20657587, PubMed:20943666). May play a role X inactivation in females (PubMed:21217699)