ANKFY1

Ankyrin repeat and FYVE domain-containing protein 1 is a protein that in humans is encoded by the ANKFY1 gene.[5][6][7]

ANKFY1
Identifiers
Aliases	ANKFY1, ANKHZN, BTBD23, ZFYVE14, ankyrin repeat and FYVE domain containing 1
External IDs	OMIM: 607927 MGI: 1337008 HomoloGene: 9491 GeneCards: ANKFY1
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p13.2 Start 4,163,821 bp[1] End 4,263,995 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 B4 Start 72,690,006 bp[2] End 72,772,146 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • phosphatidylinositol phosphate binding • Rab GTPase binding • GO:0001948 protein binding • metal ion binding Cellular component • cytoplasm • macropinosome • Retromer • lysosomal membrane • early endosome • endosome membrane • extracellular exosome • membrane • cytosol • endosome • intracellular membrane-bounded organelle Biological process • positive regulation of pinocytosis • endosomal vesicle fusion • retrograde transport, endosome to Golgi • endocytosis • Golgi to lysosome transport • endosomal transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	51479	11736
Ensembl	ENSG00000185722	ENSMUSG00000020790
UniProt	Q9P2R3	Q810B6
RefSeq (mRNA)	NM_001257999 NM_016376 NM_020740 NM_001330063	NM_009671
RefSeq (protein)	NP_001244928 NP_001316992 NP_057460	NP_033801
Location (UCSC)	Chr 17: 4.16 – 4.26 Mb	Chr 11: 72.69 – 72.77 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000185722 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020790 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: ANKFY1 ankyrin repeat and FYVE domain containing 1".

External links

• Human ANKFY1 genome location and ANKFY1 gene details page in the UCSC Genome Browser.

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. CiteSeerX 10.1.1.500.923. 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.