ANKFY1

Protein-coding gene in the species Homo sapiens
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
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for ANKFY1
Genomic location for ANKFY1
Band17p13.2Start4,163,821 bp[1]
End4,263,995 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for ANKFY1
Genomic location for ANKFY1
Band11|11 B4Start72,580,832 bp[2]
End72,662,972 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS
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
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

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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000185722 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: ANKFY1 ankyrin repeat and FYVE domain containing 1".

Further reading

  • Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (Jun 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research. 9 (3): 99–106. CiteSeerX 10.1.1.500.923. doi:10.1093/dnares/9.3.99. PMID 12168954.
  • Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Ito K, Ishii N, Miyashita A, Tominaga K, Kuriyama H, Maruyama H, Shirai M, Naito M, Arakawa M, Kuwano R (Apr 1999). "Molecular cloning of a novel 130-kDa cytoplasmic protein, Ankhzn, containing Ankyrin repeats hooked to a zinc finger motif". Biochemical and Biophysical Research Communications. 257 (1): 206–13. doi:10.1006/bbrc.1999.0430. PMID 10092534.
  • Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O (Oct 1999). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 6 (5): 337–45. doi:10.1093/dnares/6.5.337. PMID 10574462.
  • Schnatwinkel C, Christoforidis S, Lindsay MR, Uttenweiler-Joseph S, Wilm M, Parton RG, Zerial M (Sep 2004). "The Rab5 effector Rabankyrin-5 regulates and coordinates different endocytic mechanisms". PLOS Biology. 2 (9): E261. doi:10.1371/journal.pbio.0020261. PMC 514490. PMID 15328530. Open access icon
  • Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.


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