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ANKFY1

From Wikipedia, the free encyclopedia
ANKFY1
Identifiers
AliasesANKFY1, ANKHZN, BTBD23, ZFYVE14, ankyrin repeat and FYVE domain containing 1
External IDsOMIM: 607927; MGI: 1337008; HomoloGene: 9491; GeneCards: ANKFY1; OMA:ANKFY1 - orthologs
Orthologs
SpeciesHumanMouse
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

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

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

Function

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185722Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020790Ensembl, 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. ^ a b "Entrez Gene: ANKFY1 ankyrin repeat and FYVE domain containing 1".
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Further reading

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