AHCYL1 Gene - S-adenosylhomocysteine hydrolase-like 1 | Function, Mutations & Disease

AHCYL1 (S-adenosylhomocysteine hydrolase-like 1) encodes a protein that shares sequence similarity with S-adenosylhomocysteine hydrolase but lacks enzymatic activity. The protein, also known as IRBIT (IP3 receptor-binding protein released with inositol 1,4,5-trisphosphate), functions as a multifunctional regulator of intracellular signaling, including modulation of inositol 1,4,5-trisphosphate receptors, ion channels, and transporters. It is involved in cellular processes such as calcium signaling, pH regulation, and cell proliferation. AHCYL1 is expressed in various tissues and has been implicated in cancer and neurological disorders.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• IP3 receptor signaling (Reactome: R-HSA-1855204)

• Calcium signaling pathway (KEGG: hsa04020)

• cAMP signaling pathway (KEGG: hsa04024)

The AHCYL1 protein (UniProt O43865) is a 530-amino acid cytoplasmic and membrane-associated protein. It contains an N-terminal domain that binds inositol 1,4,5-trisphosphate receptors (IP3Rs) and a C-terminal domain with similarity to S-adenosylhomocysteine hydrolase but lacking catalytic activity. The protein acts as a key regulator of IP3R-mediated calcium release, ion transport, and pH homeostasis. It is expressed in multiple tissues and is implicated in cell proliferation, differentiation, and survival.