| Gene Symbol |
ANKFY1
|
| Entrez Gene |
51479
|
| Alt Symbol |
ANKHZN, BTBD23, ZFYVE14
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
ankyrin repeat and FYVE domain containing 1
|
| Other Description |
Rabankyrin-5|ankyrin repeat and FYVE domain-containing protein 1|ankyrin repeat hooked to zinc finger motif|ankyrin repeats hooked to a zinc finger motif|rabankyrin-5|rank-5
|
| Swissprots |
Q9ULG5 A8KA65 Q9P2R3 Q5RKV4
|
| Accessions |
EAW90448 EAW90449 EAW90450 Q9P2R3 AB033081 BAA86569 AB037360 BAA90300 AB073897 AK025483 AK025717 AK025960 AK057047 BAG51852 AK074324 AK091008 AK225170 AK292930 BAF85619 AK302712 BAG63933 AL706226 BC052308 AAH52308 BC060812 BC148355 AAI48356 BC152991 AAI52992 CR933717 CAI46247 DA856905 XM_005256679 XP_005256736 XM_011523926 XP_011522228 XM_011523927 XP_011522229 XM_011523928 XP_011522230 XM_011523929 XP_011522231 XM_011523930 XP_011522232 XM_011523931 XP_011522233 XM_011523932 XP_011522234 XM_011523933 XP_011522235 XR_934043 NM_001257999 NP_001244928 NM_016376 NP_057460 NR_047571 NM_020740
|
| Function |
Proposed effector of Rab5. Binds to phosphatidylinositol 3-phosphate (PI(3)P). Involved in homotypic early endosome fusion and to a lesser extend 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 sucellular 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. {ECO:0000269|PubMed:15328530, ECO:0000269|PubMed:22284051, ECO:0000269|PubMed:24102721}.
|
| Subcellular Location |
Cytoplasm {ECO:0000269|PubMed:10940552}. Endosome membrane {ECO:0000269|PubMed:10940552}; Peripheral membrane protein {ECO:0000269|PubMed:10940552}. Early endosome {ECO:0000269|PubMed:15328530}. Note=Also associated with endosomal membranes. Localizes to macropinosomes. {ECO:0000269|PubMed:15328530}.
|
| Tissue Specificity |
High expression in whole adult brain and intermediate expression in all other tissues and specific brain regions examined, including fetal brain. {ECO:0000269|PubMed:10574462, ECO:0000269|PubMed:10940552}.
|