Gene/Proteome Database (LMPD)

LMPD ID
LMP002149
Gene ID
200576
Species
Homo sapiens (Human)
Gene Name
phosphoinositide kinase, FYVE finger containing
Gene Symbol
PIKFYVE
Synonyms
CFD; FAB1; HEL37; PIP5K; PIP5K3; ZFYVE29
Alternate Names
1-phosphatidylinositol 3-phosphate 5-kinase; PIPkin-III; type III PIP kinase; epididymis luminal protein 37; zinc finger, FYVE domain containing 29; 1-phosphatidylinositol-3-phosphate 5-kinase; phosphatidylinositol 3-phosphate 5-kinase type III; phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III
Chromosome
2
Map Location
2q34
EC Number
2.7.1.150
Summary
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 the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
Orthologs
View orthologs and multiple alignments for PIKFYVE

Proteins

1-phosphatidylinositol 3-phosphate 5-kinase isoform 2
Refseq ID NP_055855
Protein GI 121583483
UniProt ID Q9Y2I7
mRNA ID NM_015040
Length 2098
RefSeq Status REVIEWED
MATDDKTSPTLDSANDLPRSPTSPSHLTHFKPLTPDQDEPPFKSAYSSFVNLFRFNKERAEGGQGEQQPLSGSWTSPQLPSRTQSVRSPTPYKKQLNEELQRRSSALDTRRKAEPTFGGHDPRTAVQLRSLSTVLKRLKEIMEGKSQDSDLKQYWMPDSQCKECYDCSEKFTTFRRRHHCRLCGQIFCSRCCNQEIPGKFMGYTGDLRACTYCRKIALSYAHSTDSNSIGEDLNALSDSACSVSVLDPSEPRTPVGSRKASRNIFLEDDLAWQSLIHPDSSNTPLSTRLVSVQEDAGKSPARNRSASITNLSLDRSGSPMVPSYETSVSPQANRTYVRTETTEDERKILLDSVQLKDLWKKICHHSSGMEFQDHRYWLRTHPNCIVGKELVNWLIRNGHIATRAQAIAIGQAMVDGRWLDCVSHHDQLFRDEYALYRPLQSTEFSETPSPDSDSVNSVEGHSEPSWFKDIKFDDSDTEQIAEEGDDNLANSASPSKRTSVSSFQSTVDSDSAASISLNVELDNVNFHIKKPSKYPHVPPHPADQKEYLISDTGGQQLSISDAFIKESLFNRRVEEKSKELPFTPLGWHHNNLELLREENGEKQAMERLLSANHNHMMALLQQLLHSDSLSSSWRDIIVSLVCQVVQTVRPDVKNQDDDMDIRQFVHIKKIPGGKKFDSVVVNGFVCTKNIAHKKMSSCIKNPKILLLKCSIEYLYREETKFTCIDPIVLQEREFLKNYVQRIVDVRPTLVLVEKTVSRIAQDMLLEHGITLVINVKSQVLERISRMTQGDLVMSMDQLLTKPHLGTCHKFYMQIFQLPNEQTKTLMFFEGCPQHLGCTIKLRGGSDYELARVKEILIFMICVAYHSQLEISFLMDEFAMPPTLMQNPSFHSLIEGRGHEGAVQEQYGGGSIPWDPDIPPESLPCDDSSLLELRIVFEKGEQENKNLPQAVASVKHQEHSTTACPAGLPCAFFAPVPESLLPLPVDDQQDALGSEQPETLQQTVVLQDPKSQIRAFRDPLQDDTGLYVTEEVTSSEDKRKTYSLAFKQELKDVILCISPVITFREPFLLTEKGMRCSTRDYFAEQVYWSPLLNKEFKEMENRRKKQLLRDLSGLQGMNGSIQAKSIQVLPSHELVSTRIAEHLGDSQSLGRMLADYRARGGRIQPKNSDPFAHSKDASSTSSGQSGSKNEGDEERGLILSDAVWSTKVDCLNPINHQRLCVLFSSSSAQSSNAPSACVSPWIVTMEFYGKNDLTLGIFLERYCFRPSYQCPSMFCDTPMVHHIRRFVHGQGCVQIILKELDSPVPGYQHTILTYSWCRICKQVTPVVALSNESWSMSFAKYLELRFYGHQYTRRANAEPCGHSIHHDYHQYFSYNQMVASFSYSPIRLLEVCVPLPKIFIKRQAPLKVSLLQDLKDFFQKVSQVYVAIDERLASLKTDTFSKTREEKMEDIFAQKEMEEGEFKNWIEKMQARLMSSSVDTPQQLQSVFESLIAKKQSLCEVLQAWNNRLQDLFQQEKGRKRPSVPPSPGRLRQGEESKISAMDASPRNISPGLQNGEKEDRFLTTLSSQSSTSSTHLQLPTPPEVMSEQSVGGPPELDTASSSEDVFDGHLLGSTDSQVKEKSTMKAIFANLLPGNSYNPIPFPFDPDKHYLMYEHERVPIAVCEKEPSSIIAFALSCKEYRNALEELSKATQWNSAEEGLPTNSTSDSRPKSSSPIRLPEMSGGQTNRTTETEPQPTKKASGMLSFFRGTAGKSPDLSSQKRETLRGADSAYYQVGQTGKEGTENQGVEPQDEVDGGDTQKKQLINPHVELQFSDANAKFYCRLYYAGEFHKMREVILDSSEEDFIRSLSHSSPWQARGGKSGAAFYATEDDRFILKQMPRLEVQSFLDFAPHYFNYITNAVQQKRPTALAKILGVYRIGYKNSQNNTEKKLDLLVMENLFYGRKMAQVFDLKGSLRNRNVKTDTGKESCDVVLLDENLLKMVRDNPLYIRSHSKAVLRTSIHSDSHFLSSHLIIDYSLLVGRDDTSNELVVGIIDYIRTFTWDKKLEMVVKSTGILGGQGKMPTVVSPELYRTRFCEAMDKYFLMVPDHWTGLGLNC
1-phosphatidylinositol 3-phosphate 5-kinase isoform 3
Refseq ID NP_689884
Protein GI 22749359
UniProt ID Q9Y2I7
mRNA ID NM_152671
Length 451
RefSeq Status REVIEWED
MATDDKTSPTLDSANDLPRSPTSPSHLTHFKPLTPDQDEPPFKSAYSSFVNLFRFNKERAEGGQGEQQPLSGSWTSPQLPSRTQSVRSPTPYKKQLNEELQRRSSALGDLRACTYCRKIALSYAHSTDSNSIGEDLNALSDSACSVSVLDPSEPRTPVGSRKASRNIFLEDDLAWQSLIHPDSSNTPLSTRLVSVQEDAGKSPARNRSASITNLSLDRSGSPMVPSYETSVSPQANRTYVRTETTEDERKILLDSVQLKDLWKKICHHSSGMEFQDHRYWLRTHPNCIVGKELVNWLIRNGHIATRAQAIAIGQAMVDGRWLDCVSHHDQLFRDEYALYRPLQSTEFSETPSPDSDSVNSVEGHSEPSWFKDIKFDDSDTEQIAEEGDDNLANSASPSKRTSVSSFQSTVDSDSAASISLNVELDNVNFHIKKPSKYPHVPPHPADQKGRR
1-phosphatidylinositol 3-phosphate 5-kinase isoform 4
Refseq ID NP_001171471
Protein GI 295789162
UniProt ID Q9Y2I7
mRNA ID NM_001178000
Length 548
RefSeq Status REVIEWED
MATDDKTSPTLDSANDLPRSPTSPSHLTHFKPLTPDQDEPPFKSAYSSFVNLFRFNKERAEGGQGEQQPLSGSWTSPQLPSRTQSVRSPTPYKKQLNEELQRRSSALDTRRKAEPTFGGHDPRTAVQLRSLSTVLKRLKEIMEGKSQDSDLKQYWMPDSQCKECYDCSEKFTTFRRRHHCRLCGQIFCSRCCNQEIPGKFMGYTGDLRACTYCRKIALSYAHSTDSNSIGEDLNALSDSACSVSVLDPSEPRTPVGSRKASRNIFLEDDLAWQSLIHPDSSNTPLSTRLVSVQEDAGKSPARNRSASITNLSLDRSGSPMVPSYETSVSPQANRTYVRTETTEDERKILLDSVQLKDLWKKICHHSSGMEFQDHRYWLRTHPNCIVGKELVNWLIRNGHIATRAQAIAIGQAMVDGRWLDCVSHHDQLFRDEYALYRPLQSTEFSETPSPDSDSVNSVEGHSEPSWFKDIKFDDSDTEQIAEEGDDNLANSASPSKRTSVSSFQSTVDSDSAASISLNVELDNVNFHIKKPSKYPHVPPHPADQKGRR

Gene Information

Entrez Gene ID
200576
Gene Name
phosphoinositide kinase, FYVE finger containing
Gene Symbol
PIKFYVE
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0000139 TAS:Reactome C Golgi membrane
GO:0005911 IEA:Ensembl C cell-cell junction
GO:0031410 IEA:Ensembl C cytoplasmic vesicle
GO:0005829 IEA:Ensembl C cytosol
GO:0031901 IDA:UniProtKB C early endosome membrane
GO:0010008 IDA:UniProtKB C endosome membrane
GO:0031902 TAS:Reactome C late endosome membrane
GO:0045121 IDA:HGNC C membrane raft
GO:0048471 IEA:Ensembl C perinuclear region of cytoplasm
GO:0012506 IEA:Ensembl C vesicle membrane
GO:0000285 IEA:UniProtKB-EC F 1-phosphatidylinositol-3-phosphate 5-kinase activity
GO:0016308 TAS:HGNC F 1-phosphatidylinositol-4-phosphate 5-kinase activity
GO:0005524 IEA:UniProtKB-KW F ATP binding
GO:0043813 TAS:Reactome F phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
GO:0008270 IEA:Ensembl F zinc ion binding
GO:0044267 IEA:InterPro P cellular protein metabolic process
GO:0035556 IEA:Ensembl P intracellular signal transduction
GO:0032288 IEA:Ensembl P myelin assembly
GO:0006661 TAS:Reactome P phosphatidylinositol biosynthetic process
GO:0046854 TAS:GOC P phosphatidylinositol phosphorylation
GO:0036092 TAS:GOC P phosphatidylinositol-3-phosphate biosynthetic process
GO:0006644 TAS:Reactome P phospholipid metabolic process
GO:0034504 IMP:UniProtKB P protein localization to nucleus
GO:0042147 IMP:UniProtKB P retrograde transport, endosome to Golgi
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa04145 Phagosome

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_120836 Synthesis of PIPs at the Golgi membrane
REACT_120756 Synthesis of PIPs at the early endosome membrane
REACT_120918 Synthesis of PIPs at the late endosome membrane

Domain Information

InterPro Annotations

Accession Description
IPR002423 Chaperonin Cpn60/TCP-1
IPR000591 DEP domain
IPR000306 FYVE zinc finger
IPR027409 GroEL-like apical domain
IPR027483 Phosphatidylinositol-4-phosphate 5-kinase, C-terminal
IPR027484 Phosphatidylinositol-4-phosphate 5-kinase, N-terminal domain
IPR002498 Phosphatidylinositol-4-phosphate 5-kinase, core
IPR016034 Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup
IPR027410 TCP-1-like chaperonin intermediate domain
IPR011991 Winged helix-turn-helix DNA-binding domain
IPR017455 Zinc finger, FYVE-related
IPR011011 Zinc finger, FYVE/PHD-type
IPR013083 Zinc finger, RING/FYVE/PHD-type

UniProt Annotations

Entry Information

Gene Name
phosphoinositide kinase, FYVE finger containing
Protein Entry
FYV1_HUMAN
UniProt ID
Q9Y2I7
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9Y2I7-1; Sequence=Displayed; Name=2; IsoId=Q9Y2I7-2; Sequence=VSP_040108, VSP_040110, VSP_040111; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y2I7-3; Sequence=VSP_040109, VSP_040110, VSP_040111; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y2I7-4; Sequence=VSP_040110, VSP_040111; Note=No experimental confirmation available.;
Catalytic Activity ATP + 1-phosphatidyl-1D-myo-inositol 3- phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate.
Disease Corneal dystrophy, fleck (CFD) [MIM
Function The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo- inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolar pathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicular bodies (MVB) transport intermediates from early endosomes.
Ptm Phosphorylated in response to insulin at Ser-318 in a protein kinase B (PKB)-dependent manner. {ECO
Sequence Caution Sequence=BAC03674.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ;
Similarity Contains 1 DEP domain. {ECO
Similarity Contains 1 FYVE-type zinc finger.
Similarity Contains 1 PIPK domain. {ECO
Subcellular Location Endosome membrane . Note=Mainly associated with membranes of the late endocytic pathway.
Subunit Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold.

Identical and Related Proteins

Unique RefSeq proteins for LMP002149 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
121583483 RefSeq NP_055855 2098 1-phosphatidylinositol 3-phosphate 5-kinase isoform 2
22749359 RefSeq NP_689884 451 1-phosphatidylinositol 3-phosphate 5-kinase isoform 3
295789162 RefSeq NP_001171471 548 1-phosphatidylinositol 3-phosphate 5-kinase isoform 4

Identical Sequences to LMP002149 proteins

Reference Database Accession Length Protein Name
GI:295789162 GenBank AAI25054.1 548 PIP5K3 protein [Homo sapiens]
GI:121583483 GenBank AAI56452.1 2098 Phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III, partial [synthetic construct]
GI:121583483 GenBank AAI72527.1 2098 Phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III [synthetic construct]
GI:22749359 GenBank AIC53376.1 451 PIKFYVE, partial [synthetic construct]
GI:22749359 GenBank AIC62898.1 451 PIKFYVE, partial [synthetic construct]
GI:295789162 RefSeq XP_003254059.2 548 PREDICTED: 1-phosphatidylinositol 3-phosphate 5-kinase isoform 1 [Nomascus leucogenys]
GI:22749359 RefSeq XP_008972534.1 451 PREDICTED: 1-phosphatidylinositol 3-phosphate 5-kinase isoform X9 [Pan paniscus]
GI:22749359 RefSeq XP_009181194.1 451 PREDICTED: 1-phosphatidylinositol 3-phosphate 5-kinase isoform X14 [Papio anubis]
GI:22749359 RefSeq XP_009181195.1 451 PREDICTED: 1-phosphatidylinositol 3-phosphate 5-kinase isoform X14 [Papio anubis]
GI:22749359 RefSeq XP_009442419.1 451 PREDICTED: 1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 [Pan troglodytes]
GI:121583483 SwissProt Q9Y2I7.3 2098 RecName: Full=1-phosphatidylinositol 3-phosphate 5-kinase; Short=Phosphatidylinositol 3-phosphate 5-kinase; AltName: Full=FYVE finger-containing phosphoinositide kinase; AltName: Full=PIKfyve; AltName: Full=Phosphatidylinositol 3-phosphate 5-kinase type III; Short=PIPkin-III; Short=Type III PIP kinase [Homo sapiens]

Related Sequences to LMP002149 proteins

Reference Database Accession Length Protein Name
GI:295789162 GenBank AAR19397.1 2098 FYVE domain-containing phosphoinositide kinase [Homo sapiens]
GI:121583483 GenBank AAR19397.1 2098 FYVE domain-containing phosphoinositide kinase [Homo sapiens]
GI:22749359 GenBank EAW70444.1 2001 phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III, isoform CRA_a [Homo sapiens]
GI:22749359 GenBank EAW70446.1 450 phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III, isoform CRA_c [Homo sapiens]
GI:121583483 GenBank EAW70447.1 2098 phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III, isoform CRA_d [Homo sapiens]
GI:295789162 GenBank EAW70447.1 2098 phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III, isoform CRA_d [Homo sapiens]
GI:295789162 GenBank ACJ13663.1 2098 epididymis luminal protein 37 [Homo sapiens]
GI:121583483 GenBank ACJ13663.1 2098 epididymis luminal protein 37 [Homo sapiens]
GI:121583483 GenBank ADS18222.1 2098 Sequence 79 from patent US 7763418
GI:295789162 GenBank ADS18222.1 2098 Sequence 79 from patent US 7763418
GI:121583483 GenBank JAA13570.1 2098 phosphoinositide kinase, FYVE finger containing [Pan troglodytes]
GI:121583483 GenBank AHD78775.1 2098 Sequence 27384 from patent US 8586006
GI:295789162 GenBank AHD78775.1 2098 Sequence 27384 from patent US 8586006
GI:295789162 RefSeq XP_001108540.1 2098 PREDICTED: 1-phosphatidylinositol-3-phosphate 5-kinase-like isoform 4 [Macaca mulatta]
GI:22749359 RefSeq XP_008997611.1 451 PREDICTED: 1-phosphatidylinositol 3-phosphate 5-kinase isoform X13 [Callithrix jacchus]
GI:22749359 RefSeq XP_009442415.1 2001 PREDICTED: 1-phosphatidylinositol 3-phosphate 5-kinase isoform X13 [Pan troglodytes]
GI:22749359 RefSeq XP_010375143.1 451 PREDICTED: 1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 [Rhinopithecus roxellana]
GI:22749359 RefSeq XP_010334694.1 451 PREDICTED: 1-phosphatidylinositol 3-phosphate 5-kinase isoform X5 [Saimiri boliviensis boliviensis]