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Target intelligence / Profile preview
Fibrosin-like protein 1 (FBRSL1)
- Target
- FBRSL1
- Molecular classification
- Other (poorly characterized nuclear/cytoplasmic protein), Epigenetic regulator (component of Polycomb repressive complexes PRC1.3 and PRC1.5), RNA-binding protein
01
Overview
Fibrosin-like protein 1 (FBRSL1) is a poorly characterized member of the AUTS2 gene family, evolutionarily related to AUTS2 and FBRS. It encodes multiple isoforms that localize to both the nucleus and cytoplasm, with important roles in neurodevelopment and embryogenesis, including craniofacial and heart development. FBRSL1 is a component of Polycomb repressive complexes (PRC1.3 and PRC1.5), implicated in transcriptional regulation and chromatin modification. Genetic variants, especially truncating mutations affecting short N-terminal isoforms, cause a novel neurodevelopmental syndrome with intellectual disability, craniofacial abnormalities, and growth restriction. FBRSL1 has also been associated with melanoma risk, DNA repair, and may modulate risk for Parkinson’s disease. Its exact molecular function is not well defined, and it is not a receptor, transporter, enzyme, or recognized therapeutic target.
- Other names
- AUTS2-like proteinKIAA1545XTP9HBV X-transactivated gene 9 proteinHBV XAg-transactivated protein 9fibrosin-1-like proteinFBSL_HUMAN
02
Biological functions
NeurodevelopmentTranscriptional regulationRegulation of chromatin structure via polycomb complexesEmbryonic development (including craniofacial and heart development)Possible role in cell division and microtubule–kinetochore organization
03
Disease associations
Neurodevelopmental disorders (de novo variants lead to intellectual disability, craniofacial abnormalities, microcephaly, growth restriction)Heart defects (based on animal models and human pathogenic variants)Cancer (copy number alterations and variants in the gene family have been associated)Melanoma (genetic variants linked to melanoma risk, particularly with UV exposure)Parkinson’s disease (genetic variant linked to decreased disease risk)
04
Safety considerations
FBRSL1 variants are associated with a complex neurodevelopmental syndrome characterized by developmental defects if disruptedNo safety or therapeutic concerns reported related to targeting
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