• Gene id: 51479

Gene Summary

• Gene Symbol: ANKFY1   Gene   UCSC   Ensembl
• Aliases: ANKHZN, BTBD23, ZFYVE14
• Gene name: ankyrin repeat and FYVE domain containing 1
• Alternate names: rabankyrin-5, Rabankyrin-5, ankyrin repeat and FYVE domain-containing protein 1, ankyrin repeat hooked to zinc finger motif, ankyrin repeats hooked to a zinc finger motif, rank-5,
• Gene location: 17p13.2 (135748812: 135729591)     Exons: 4     NC_000007.14
• Gene summary(Entrez): 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 finge
• OMIM: 607927

Protein Summary

• Protein general information: Q9P2R3  
  • Name: Rabankyrin 5 (Rank 5) (Ankyrin repeat and FYVE domain containing protein 1) (Ankyrin repeats hooked to a zinc finger motif)
  • Length: 1169  
  • Mass: 128399
  • Tissue specificity: High expression in whole adult brain and intermediate expression in all other tissues and specific brain regions examined, including fetal brain. {ECO
• Sequence:

  MAEEEVAKLEKHLMLLRQEYVKLQKKLAETEKRCALLAAQANKESSSESFISRLLAIVADLYEQEQYSDLKIKVG
  DRHISAHKFVLAARSDSWSLANLSSTKELDLSDANPEVTMTMLRWIYTDELEFREDDVFLTELMKLANRFQLQLL
  RERCEKGVMSLVNVRNCIRFYQTAEELNASTLMNYCAEIIASHWDDLRKEDFSSMSAQLLYKMIKSKTEYPLHKA
  IKVEREDVVFLYLIEMDSQLPGKLNEADHNGDLALDLALSRRLESIATTLVSHKADVDMVDKSGWSLLHKGIQRG
  DLFAATFLIKNGAFVNAATLGAQETPLHLVALYSSKKHSADVMSEMAQIAEALLQAGANPNMQDSKGRTPLHVSI
  MAGNEYVFSQLLQCKQLDLELKDHEGSTALWLAVQHITVSSDQSVNPFEDVPVVNGTSFDENSFAARLIQRGSHT
  DAPDTATGNCLLQRAAGAGNEAAALFLATNGAHVNHRNKWGETPLHTACRHGLANLTAELLQQGANPNLQTEEAL
  PLPKEAASLTSLADSVHLQTPLHMAIAYNHPDVVSVILEQKANALHATNNLQIIPDFSLKDSRDQTVLGLALWTG
  MHTIAAQLLGSGAAINDTMSDGQTLLHMAIQRQDSKSALFLLEHQADINVRTQDGETALQLAIRNQLPLVVDAIC
  TRGADMSVPDEKGNPPLWLALANNLEDIASTLVRHGCDATCWGPGPGGCLQTLLHRAIDENNEPTACFLIRSGCD
  VNSPRQPGANGEGEEEARDGQTPLHLAASWGLEETVQCLLEFGANVNAQDAEGRTPIHVAISSQHGVIIQLLVSH
  PDIHLNVRDRQGLTPFACAMTFKNNKSAEAILKRESGAAEQVDNKGRNFLHVAVQNSDIESVLFLISVHANVNSR
  VQDASKLTPLHLAVQAGSEIIVRNLLLAGAKVNELTKHRQTALHLAAQQDLPTICSVLLENGVDFAAVDENGNNA
  LHLAVMHGRLNNIRVLLTECTVDAEAFNLRGQSPLHILGQYGKENAAAIFDLFLECMPGYPLDKPDADGSTVLLL
  AYMKGNANLCRAIVRSGARLGVNNNQGVNIFNYQVATKQLLFRLLDMLSKEPPWCDGSYCYECTARFGVTTRKHH
  CRHCGRLLCHKCSTKEIPIIKFDLNKPVRVCNICFDVLTLGGVS

• Structural information:
  • Protein Domains: (68..13-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR000210  IPR011333   IPR000306  IPR017455  IPR011011  IPR013083  
  • Prosite: PS50297 PS50088 PS50097 PS50178
  • DIP: 46068
  • STRING: ENSP00000459943
• Other Databases: GeneCards:  ANKFY1  Malacards:  ANKFY1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034058	endosomal vesicle fusion	IDA	biological process
GO:0017137	Rab GTPase binding	IDA	molecular function
GO:1901981	phosphatidylinositol phosphate binding	IDA	molecular function
GO:0044354	macropinosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0048549	positive regulation of pinocytosis	IDA	biological process
GO:0030904	retromer complex	IDA	colocalizes with
GO:0016197	endosomal transport	IMP	biological process
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0090160	Golgi to lysosome transport	IMP	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006897	endocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010008	endosome membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0010008	endosome membrane	ISS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq