ANKFY1

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ANKFY1
Identifiers
Aliases ANKFY1, ANKHZN, BTBD23, ZFYVE14, ankyrin repeat and FYVE domain containing 1
External IDs MGI: 1337008 HomoloGene: 9491 GeneCards: ANKFY1
RNA expression pattern
PBB GE ANKFY1 219868 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001257999
NM_016376
NM_020740
NM_001330063

NM_009671

RefSeq (protein)

NP_001244928
NP_001316992
NP_057460

NP_033801.4
NP_033801

Location (UCSC) Chr 17: 4.16 – 4.26 Mb Chr 11: 72.69 – 72.77 Mb
PubMed search [1] [2]
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.[3][4][5]

Function[edit]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: ANKFY1 ankyrin repeat and FYVE domain containing 1". 

External links[edit]

Further reading[edit]