AlphaFold predicted structure
LAS1L · Q9Y4W2
Mean pLDDT
62.5/ 100
Low
734 residues
Confidence breakdown
- Very high(≥ 90)24%
- Confident(70–90)23%
- Low(50–70)12%
- Very low(< 50)41%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
LAS1L
Chr Xq12LAS1 like ribosome biogenesis factor
- Aliases:
- FLJ12525, Las1
- MANE:
- ENST00000374811.8
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesDDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesHereditary neuropathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Hereditary neuropathy or pain disorder
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)
Wilson-Turner syndrome
0.66spinal muscular atrophy with respiratory distress type 2
0.37hereditary disease
0.30Global developmental delay
0.26neurodevelopmental disorder
0.12autism spectrum disorder
0.12neurodegenerative disease
0.10cardiovascular disorder
0.05response to xenobiotic stimulus
0.03hypertensive disorder
0.03
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Ribosomal biogenesis protein LAS1L
Required for the synthesis of the 60S ribosomal subunit and maturation of the 28S rRNA (PubMed:20647540). Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (PubMed:22872859). Required for the efficient pre-rRNA processing at both ends of internal transcribed spacer 2 (ITS2) (PubMed:22083961)