ANKFY1

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
More reference expression data
Orthologs
Species Human Mouse
Entrez

51479

11736

Ensembl

ENSG00000185722

ENSMUSG00000020790

UniProt

Q9P2R3

Q810B6

RefSeq (mRNA)

NM_001257999
NM_016376
NM_020740

NM_009671

RefSeq (protein)

NP_001244928.1
NP_057460.3

NP_033801.4

Location (UCSC) Chr 17: 4.16 – 4.26 Mb Chr 11: 72.69 – 72.77 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/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

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

  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. 1 2 "Entrez Gene: ANKFY1 ankyrin repeat and FYVE domain containing 1".

Further reading


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