ANKFY1 information

ANKFY1
Identifiers
Aliases	ANKFY1, ANKHZN, BTBD23, ZFYVE14, ankyrin repeat and FYVE domain containing 1
External IDs	OMIM: 607927; MGI: 1337008; HomoloGene: 9491; GeneCards: ANKFY1; OMA:ANKFY1 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	4,263,995 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	72,662,972 bp
RNA expression pattern
	Top expressed in
	skin of hip; ; parietal pleura; ; visceral pleura; ; corpus callosum; ; tibia; ; Achilles tendon; ; skin of thigh; ; palpebral conjunctiva; ; external globus pallidus; ; right hemisphere of cerebellum;
	Top expressed in
	stroma of bone marrow; ; granulocyte; ; epithelium of stomach; ; corneal stroma; ; lactiferous gland; ; calvaria; ; lumbar spinal ganglion; ; mucous cell of stomach; ; wall of urinary bladder; ; mucosa of urinary bladder;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	phosphatidylinositol phosphate binding; protein binding; metal ion binding;
Cellular component	cytoplasm; macropinosome; retromer complex; 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
	51479
	11736
	ENSG00000185722
	ENSMUSG00000020790
	Q9P2R3
	Q810B6
	NM_001257999; NM_016376; NM_020740; NM_001330063
	NM_009671
	NP_001244928; NP_001316992; NP_057460
	NP_033801
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000185722 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020790 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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. S2CID 11187568.
^ "Entrez Gene: ANKFY1 ankyrin repeat and FYVE domain containing 1".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000185722 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10940552-5] 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.

[pmid17273843-6] 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. S2CID 11187568.

[entrez-7] "Entrez Gene: ANKFY1 ankyrin repeat and FYVE domain containing 1".