ANKFY1


Description

The ANKFY1 (ankyrin repeat and FYVE domain containing 1) is a protein-coding gene located on chromosome 17.

ANKFY1, also known as Ankyrin repeat and FYVE domain-containing protein 1, is a cytoplasmic protein encoded by the human ANKFY1 gene. It contains a coiled-coil structure, a BTB/POZ domain, Ankyrin repeats, and a FYVE-finger motif. This protein belongs to a group of double zinc finger proteins involved in vesicle or protein transport. Multiple isoforms of ANKFY1 exist due to alternative splicing.

ANKFY1 acts as an effector of Rab5, binding to phosphatidylinositol 3-phosphate (PI(3)P). It plays a role in homotypic early endosome fusion and, to a lesser extent, in heterotypic fusion of clathrin-coated vesicles with early endosomes. ANKFY1 is involved in macropinocytosis, a process dependent on Rab5-GTP. It is crucial for maintaining correct endosomal localization and participates in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. ANKFY1 regulates the subcellular localization of the retromer complex in an EHD1-dependent manner, contributing to endosome-to-Golgi transport and biosynthetic transport to late endosomes and lysosomes. This suggests that ANKFY1 regulates retromer complex-mediated retrograde transport.

ANKFY1 is also known as ANKHZN, BTBD23, ZFYVE14.

Associated Diseases



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