Aliases for ANKFY1 Gene
External Ids for ANKFY1 Gene
Previous GeneCards Identifiers for ANKFY1 Gene
This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]
GeneCards Summary for ANKFY1 Gene
ANKFY1 (Ankyrin Repeat And FYVE Domain Containing 1) is a Protein Coding gene. Diseases associated with ANKFY1 include Nephrotic Syndrome, Type 6 and Autosomal Recessive Spastic Ataxia. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding and phosphatidylinositol phosphate binding.
UniProtKB/Swiss-Prot Summary for ANKFY1 Gene
Proposed effector of Rab5. Binds to phosphatidylinositol 3-phosphate (PI(3)P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of chlathrin-coated vesicles with early endosomes. Involved in macropinocytosis; the function is dependent on Rab5-GTP. Required for correct endosomal localization. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Regulates the subcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport and biosynthetic transport to late endosomes and lysosomes indicative for a regulation of retromer complex-mediated retrograde transport.