• Gene id: 200576

Gene Summary

• Gene Symbol: PIKFYVE   Gene   UCSC   Ensembl
• Aliases: CFD, FAB1, HEL37, PIP5K, PIP5K3, ZFYVE29
• Gene name: phosphoinositide kinase, FYVE-type zinc finger containing
• Alternate names: 1-phosphatidylinositol 3-phosphate 5-kinase, PIPkin-III, epididymis luminal protein 37, phosphatidylinositol 3-phosphate 5-kinase type III, phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III, phosphoinositide kinase, FYVE finger containin,
• Gene location: 2q34 (208266177: 208358746)     Exons: 43     NC_000002.12
• Gene summary(Entrez): Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by
• OMIM: 609414

Protein Summary

• Protein general information: Q9Y2I7  
  • Name: 1 phosphatidylinositol 3 phosphate 5 kinase (Phosphatidylinositol 3 phosphate 5 kinase) (EC 2.7.1.150) (FYVE finger containing phosphoinositide kinase) (PIKfyve) (Phosphatidylinositol 3 phosphate 5 kinase type III) (PIPkin III) (Type III PIP kinase)
  • Length: 2098  
  • Mass: 237136
• Sequence:

  MATDDKTSPTLDSANDLPRSPTSPSHLTHFKPLTPDQDEPPFKSAYSSFVNLFRFNKERAEGGQGEQQPLSGSWT
  SPQLPSRTQSVRSPTPYKKQLNEELQRRSSALDTRRKAEPTFGGHDPRTAVQLRSLSTVLKRLKEIMEGKSQDSD
  LKQYWMPDSQCKECYDCSEKFTTFRRRHHCRLCGQIFCSRCCNQEIPGKFMGYTGDLRACTYCRKIALSYAHSTD
  SNSIGEDLNALSDSACSVSVLDPSEPRTPVGSRKASRNIFLEDDLAWQSLIHPDSSNTPLSTRLVSVQEDAGKSP
  ARNRSASITNLSLDRSGSPMVPSYETSVSPQANRTYVRTETTEDERKILLDSVQLKDLWKKICHHSSGMEFQDHR
  YWLRTHPNCIVGKELVNWLIRNGHIATRAQAIAIGQAMVDGRWLDCVSHHDQLFRDEYALYRPLQSTEFSETPSP
  DSDSVNSVEGHSEPSWFKDIKFDDSDTEQIAEEGDDNLANSASPSKRTSVSSFQSTVDSDSAASISLNVELDNVN
  FHIKKPSKYPHVPPHPADQKEYLISDTGGQQLSISDAFIKESLFNRRVEEKSKELPFTPLGWHHNNLELLREENG
  EKQAMERLLSANHNHMMALLQQLLHSDSLSSSWRDIIVSLVCQVVQTVRPDVKNQDDDMDIRQFVHIKKIPGGKK
  FDSVVVNGFVCTKNIAHKKMSSCIKNPKILLLKCSIEYLYREETKFTCIDPIVLQEREFLKNYVQRIVDVRPTLV
  LVEKTVSRIAQDMLLEHGITLVINVKSQVLERISRMTQGDLVMSMDQLLTKPHLGTCHKFYMQIFQLPNEQTKTL
  MFFEGCPQHLGCTIKLRGGSDYELARVKEILIFMICVAYHSQLEISFLMDEFAMPPTLMQNPSFHSLIEGRGHEG
  AVQEQYGGGSIPWDPDIPPESLPCDDSSLLELRIVFEKGEQENKNLPQAVASVKHQEHSTTACPAGLPCAFFAPV
  PESLLPLPVDDQQDALGSEQPETLQQTVVLQDPKSQIRAFRDPLQDDTGLYVTEEVTSSEDKRKTYSLAFKQELK
  DVILCISPVITFREPFLLTEKGMRCSTRDYFAEQVYWSPLLNKEFKEMENRRKKQLLRDLSGLQGMNGSIQAKSI
  QVLPSHELVSTRIAEHLGDSQSLGRMLADYRARGGRIQPKNSDPFAHSKDASSTSSGQSGSKNEGDEERGLILSD
  AVWSTKVDCLNPINHQRLCVLFSSSSAQSSNAPSACVSPWIVTMEFYGKNDLTLGIFLERYCFRPSYQCPSMFCD
  TPMVHHIRRFVHGQGCVQIILKELDSPVPGYQHTILTYSWCRICKQVTPVVALSNESWSMSFAKYLELRFYGHQY
  TRRANAEPCGHSIHHDYHQYFSYNQMVASFSYSPIRLLEVCVPLPKIFIKRQAPLKVSLLQDLKDFFQKVSQVYV
  AIDERLASLKTDTFSKTREEKMEDIFAQKEMEEGEFKNWIEKMQARLMSSSVDTPQQLQSVFESLIAKKQSLCEV
  LQAWNNRLQDLFQQEKGRKRPSVPPSPGRLRQGEESKISAMDASPRNISPGLQNGEKEDRFLTTLSSQSSTSSTH
  LQLPTPPEVMSEQSVGGPPELDTASSSEDVFDGHLLGSTDSQVKEKSTMKAIFANLLPGNSYNPIPFPFDPDKHY
  LMYEHERVPIAVCEKEPSSIIAFALSCKEYRNALEELSKATQWNSAEEGLPTNSTSDSRPKSSSPIRLPEMSGGQ
  TNRTTETEPQPTKKASGMLSFFRGTAGKSPDLSSQKRETLRGADSAYYQVGQTGKEGTENQGVEPQDEVDGGDTQ
  KKQLINPHVELQFSDANAKFYCRLYYAGEFHKMREVILDSSEEDFIRSLSHSSPWQARGGKSGAAFYATEDDRFI
  LKQMPRLEVQSFLDFAPHYFNYITNAVQQKRPTALAKILGVYRIGYKNSQNNTEKKLDLLVMENLFYGRKMAQVF
  DLKGSLRNRNVKTDTGKESCDVVLLDENLLKMVRDNPLYIRSHSKAVLRTSIHSDSHFLSSHLIIDYSLLVGRDD
  TSNELVVGIIDYIRTFTWDKKLEMVVKSTGILGGQGKMPTVVSPELYRTRFCEAMDKYFLMVPDHWTGLGLNC

• Structural information:
  • Protein Domains: (365..44-)
    (/note="DEP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00066-)
    (1758..208-)
    (/note="PIPK-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00781"-)
  • Interpro: IPR002423  IPR000591  IPR027409  IPR037378  IPR002498   IPR027484  IPR027410  IPR036388  IPR036390  IPR000306  IPR017455  IPR011011  IPR013083  
  • Prosite: PS50186 PS51455 PS50178
  • CDD: cd04448
  • STRING: ENSP00000264380
• Other Databases: GeneCards:  PIKFYVE  Malacards:  PIKFYVE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904562	phosphatidylinositol 5-phosphate metabolic process	IC	biological process
GO:2000785	regulation of autophagosome assembly	IMP	biological process
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045121	membrane raft	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0000285	1-phosphatidylinositol-3-phosphate 5-kinase activity	IEA	molecular function
GO:0046488	phosphatidylinositol metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016307	phosphatidylinositol phosphate kinase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000285	1-phosphatidylinositol-3-phosphate 5-kinase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031902	late endosome membrane	TAS	cellular component
GO:0043813	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0032288	myelin assembly	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	IEA	molecular function
GO:0012506	vesicle membrane	IEA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005911	cell-cell junction	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0010008	endosome membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0031901	early endosome membrane	IDA	cellular component
GO:0031901	early endosome membrane	IDA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0006898	receptor-mediated endocytosis	IMP	NOT|biological process
GO:0034504	protein localization to nucleus	IMP	biological process
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04810	Regulation of actin cytoskeleton
hsa04145	Phagosome
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Fleck corneal dystrophy	KEGG:H00957
Fleck corneal dystrophy	KEGG:H00957
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)