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
AliasesANKFY1, ANKHZN, BTBD23, ZFYVE14, ankyrin repeat and FYVE domain containing 1
External IDsOMIM: 607927 MGI: 1337008 HomoloGene: 9491 GeneCards: ANKFY1
Orthologs
SpeciesHumanMouse
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 MbChr 11: 72.58 – 72.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. S2CID 11187568.
  7. "Entrez Gene: ANKFY1 ankyrin repeat and FYVE domain containing 1".

Further reading


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