AHCYL1

Description

The AHCYL1 (adenosylhomocysteinase like 1) is a protein-coding gene located on chromosome 1.

Putative adenosylhomocysteinase 2 is an enzyme that in humans is encoded by the AHCYL1 gene.

== Interactions == AHCYL1 has been shown to interact with ITPR1.

== References ==

== External links == Human AHCYL1 genome location and AHCYL1 gene details page in the UCSC Genome Browser.

AHCYL1 is a multifaceted cellular regulator involved in various essential cellular functions, including regulation of epithelial bicarbonate and fluid secretion, mRNA processing, and DNA replication. It modulates the sensitivity of ITPR1 to inositol 1,4,5-trisphosphate, acting as an endogenous 'pseudoligand' whose inhibitory activity is influenced by its phosphorylation status. AHCYL1 promotes the interaction between the endoplasmic reticulum (ER) and mitochondria, facilitating calcium transfer from the ER to mitochondria. Under normal conditions, it cooperates with BCL2L10 to limit calcium release through ITPR1. However, under apoptotic stress, AHCYL1 becomes dephosphorylated, leading to its dissociation from mitochondria-associated ER membranes and increased calcium transfer to mitochondria, ultimately promoting apoptosis. In pancreatic and salivary ducts, AHCYL1 attenuates calcium release induced by inositol 1,4,5-trisphosphate at resting state. Upon stimulation, it dissociates from ITPR1 and interacts with CFTR and SLC26A6, mediating their activation and stimulating epithelial electrolyte and fluid secretion. It also activates SLC4A4 isoform 1 to coordinate fluid and bicarbonate secretion. AHCYL1 inhibits the effects of STK39 on SLC4A4 and CFTR by recruiting PP1 phosphatase, which activates these proteins through dephosphorylation. It mediates the induction of SLC9A3 surface expression by Angiotensin-2 and can activate or reverse SLC9A3 activity depending on cell type and calcium levels. AHCYL1 may modulate the polyadenylation state of specific mRNAs by controlling the subcellular location of FIP1L1 and inhibiting PAPOLA activity in response to changes in its phosphorylation state. It acts as a dATP-dependent inhibitor of RRM1, controlling the dNTP pool and ensuring normal cell cycle progression. It exhibits no S-adenosyl-L-homocysteine hydrolase activity in vitro.

AHCYL1 is also known as DCAL, IRBIT, PPP1R78, PRO0233, XPVKONA.

Associated Diseases

WES Whole Exome Sequencing