Rabankyrin-5 (ANKFY1)
The protein contains 1169 amino acids for an estimated molecular weight of 128399 Da.
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. (updated: Nov. 22, 2017)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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Biological Process
Endocytosis
Endosomal transport
Endosomal vesicle fusion
Endosome localization
Golgi to lysosome transport
Positive regulation of pinocytosis
Retrograde transport, endosome to Golgi
The reference OMIM entry for this protein is 607927
Ankyrin repeats- and fyve domain-containing protein 1; ankfy1
Ankyrin repeats hooked to a zinc finger motif; ankhzn
Kiaa1255
DESCRIPTION
ANKFY1 contains several protein-interacting domains and shares significant identity with a number of S. cerevisiae proteins involved in vesicular trafficking (Kuriyama et al., 2000).CLONING
Ito et al. (1999) cloned mouse Ankfy1, which they designated Ankhzn. The deduced 1,184-amino acid protein has an apparent molecular mass of 130 kD. Ankhzn contains an N-terminal coiled-coil domain, a BTB/POZ domain, 17 ankyrin repeats, and a C-terminal zinc finger motif. The ankyrin repeats are separated into a group of 4 repeats in the N-terminal half and a group of 13 repeats in the C-terminal half. Ito et al. (1999) determined that there is a soluble form of Ankhzn and a form that associates with endosomes. By sequencing clones obtained from a size-fractionated adult brain cDNA library, Nagase et al. (1999) cloned ANKFY1, which they designated KIAA1255. The deduced protein shares 88% identity with mouse Ankhzn. RT-PCR ELISA detected high expression in whole adult brain and intermediate expression in all other tissues and specific brain regions examined, including fetal brain. By searching databases for sequences sharing homology with mouse Ankhzn, followed by PCR, Kuriyama et al. (2000) cloned ANKHZN from a fetal brain cDNA library. The deduced 1,166 amino acid protein has a calculated molecular mass of about 128 kD. ANKHZN shares 85% identity with mouse Ankhzn, and the 2 proteins have the same domain structure. Kuriyama et al. (2000) noted that the C-terminal zinc finger (FYVE) domain, which contains 8 potential Zn(2+)-coordinating cysteine residues that bind 2 Zn(2+) ions, is well conserved among proteins related to intracellular trafficking. Northern blot analysis detected a 7-kb transcript in both human and mouse brain. RT-PCR detected expression in all tissues examined. Subcellular fractionation of human kidney recovered ANKHZN in both the soluble and membrane fractions.GENE STRUCTURE
Kuriyama et al. (2000) determined that the ANKFY1 gene contains 25 exons.MAPPING
By radiation hybrid analysis, Nagase et al. (1999) mapped the ANKFY1 gene to chromosome 17. By radiation hybrid analysis and FISH, Kuriyama et al. (2000) mapped the ANKFY1 gene to chromosome 17p13. Southern blot analysis indicated that ANKFY1 is a single-copy gene. ... More on the omim web site
Feb. 10, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 607927 was added.