ANKFY1

Ankyrin repeat and FYVE domain containing 1
Identifiers
Symbols	ANKFY1 ; ANKHZN; BTBD23; ZFYVE14
External IDs	OMIM: 607927 MGI: 1337008 HomoloGene: 9491 GeneCards: ANKFY1 Gene
Gene ontology Molecular function • protein binding • Rab GTPase binding • metal ion binding • phosphatidylinositol phosphate binding Cellular component • lysosomal membrane • early endosome • endosome membrane • membrane • retromer complex • macropinosome • extracellular exosome Biological process • endocytosis • endosome localization • endosomal vesicle fusion • retrograde transport, endosome to Golgi • positive regulation of pinocytosis • Golgi to lysosome transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	51479	11736
Ensembl	ENSG00000185722	ENSMUSG00000020790
UniProt	Q9P2R3	Q810B6
RefSeq (mRNA)	NM_001257999	NM_009671
RefSeq (protein)	NP_001244928	NP_033801
Location (UCSC)	Chr 17: 4.16 – 4.26 Mb	Chr 11: 72.69 – 72.77 Mb
PubMed search

Ankyrin repeat and FYVE domain-containing protein 1 is a protein that in humans is encoded by the ANKFY1 gene.^[1][2][3]

Function

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. Alternative splicing has been observed at this locus and two variants, each encoding a distinct isoform, have been identified.^[3]

References

1. Kuriyama H, Asakawa S, Minoshima S, Maruyama H, Ishii N, Ito K, Gejyo F, Arakawa M, Shimizu N, Kuwano R (Aug 2000). "Characterization and chromosomal mapping of a novel human gene, ANKHZN". Gene 253 (2): 151–60. doi:10.1016/S0378-1119(00)00247-X. PMID 10940552.
2. Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, Di Giandomenico S, Boland-Augé A, Santorelli FM, Durr A, Brice A, Yahyaoui M, Stevanin G (May 2007). "A novel locus for autosomal recessive spastic ataxia on chromosome 17p". Human Genetics 121 (3-4): 413–20. doi:10.1007/s00439-007-0328-0. PMID 17273843.
3. "Entrez Gene: ANKFY1 ankyrin repeat and FYVE domain containing 1".

Further reading

• Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (Jun 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Ito K, Ishii N, Miyashita A, Tominaga K, Kuriyama H, Maruyama H, Shirai M, Naito M, Arakawa M, Kuwano R (Apr 1999). "Molecular cloning of a novel 130-kDa cytoplasmic protein, Ankhzn, containing Ankyrin repeats hooked to a zinc finger motif". Biochemical and Biophysical Research Communications 257 (1): 206–13. doi:10.1006/bbrc.1999.0430. PMID 10092534.
• Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O (Oct 1999). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research 6 (5): 337–45. doi:10.1093/dnares/6.5.337. PMID 10574462.
• Schnatwinkel C, Christoforidis S, Lindsay MR, Uttenweiler-Joseph S, Wilm M, Parton RG, Zerial M (Sep 2004). "The Rab5 effector Rabankyrin-5 regulates and coordinates different endocytic mechanisms". PLoS Biology 2 (9): E261. doi:10.1371/journal.pbio.0020261. PMC 514490. PMID 15328530.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.