Ankyrin repeat and sterile alpha motif domain-containing protein 1B

ANKS1B (Ankyrin repeat and sterile alpha motif domain-containing protein 1B) is a 1248-amino acid protein encoded by the *ANKS1B* gene in humans (UniProt: Q7Z6G8). The protein contains ankyrin repeat and sterile alpha motif domains and exhibits isoform-specific functions. Isoform 2 may regulate nucleoplasmic coilin protein interactions in neuronal and transformed cells, while isoform 3 can modulate global protein synthesis through alterations in nucleolar number. Isoform 4 may function as a modulator of amyloid precursor protein (APP) processing, with overexpression capable of down-regulating APP processing (UniProt: Q7Z6G8).

The functional diversity of ANKS1B isoforms suggests roles in nuclear organization and translational control relevant to neuronal function. The protein's involvement in APP processing links it to pathways implicated in neurodegeneration.

ANKS1B is classified as SFARI Category 2 (gene with strong evidence of autism association) (SFARI Cat 2), indicating curated relevance to autism spectrum disorder risk based on available evidence.