PIKFYVE - phosphoinositide kinase, FYVE-type zinc finger containing Gene

Also Known as CFD; FAB1; HEL37; PIP5K; PIP5K3; ZFYVE29

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 200576

About PIKFYVE

Cytogenetic location: 2q34 Genomic coordinates (GRCh38): 2:208,266,056-208,358,746 (from NCBI)

This gene has 9 transcripts (splice variants), 205 orthologues, 13 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 9.7), lymph node (RPKM 8.9) and 25 other tissues.

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. The protein plays a key role in cell entry of ebola virus and SARS-CoV-2 by endocytosis 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. [provided by RefSeq, Jul 2021]

PIKFYVE Products (42)

mRNA	Protein	Name
XM_047443672.1	XP_047299628.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X11
XM_047443681.1	XP_047299637.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X22
XM_047443687.1	XP_047299643.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X26
XR_007070607.1
XM_017003568.2	XP_016859057.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X5
XM_047443674.1	XP_047299630.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X16
XM_047443670.1	XP_047299626.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X10
XM_017003570.2	XP_016859059.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X23
XM_047443698.1	XP_047299654.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X32
XM_017003571.2	XP_016859060.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X28
XM_047443676.1	XP_047299632.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X17
XM_047443671.1	XP_047299627.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X11
NM_001178000.2	NP_001171471.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform 4
XM_047443677.1	XP_047299633.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X18
XM_047443689.1	XP_047299645.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X27
XM_011510782.4	XP_011509084.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X6
XM_011510788.2	XP_011509090.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X16
XM_047443679.1	XP_047299635.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X19
NM_152671.4	NP_689884.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform 3
XM_047443696.1	XP_047299652.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X31
XM_017003574.2	XP_016859063.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X32
XM_011510783.4	XP_011509085.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X7
XM_011510778.4	XP_011509080.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X1
XM_011510781.4	XP_011509083.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X3
XM_011510779.3	XP_011509081.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X1
XM_011510785.4	XP_011509087.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X9
NM_001002881.1
XM_011510786.4	XP_011509088.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X14
XM_017003569.2	XP_016859058.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X13
XM_047443695.1	XP_047299651.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X30
XM_047443690.1	XP_047299646.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X29
XM_011510789.3	XP_011509091.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X21
XM_047443673.1	XP_047299629.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X12
XM_011510787.2	XP_011509089.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X15
XM_011510784.3	XP_011509086.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X8
XM_047443680.1	XP_047299636.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X20
XM_047443667.1	XP_047299623.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X4
XM_011510792.4	XP_011509094.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X33
XM_011510780.3	XP_011509082.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X2
XM_047443682.1	XP_047299638.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X24
XM_047443686.1	XP_047299642.1	1-phosphatidylinositol 3-phosphate 5-kinase isoform X25
NM_015040.4	NP_055855.2	1-phosphatidylinositol 3-phosphate 5-kinase isoform 2

PIKFYVE Protein Structure

FYVE

DEP

Cpn60_TCP1

PIP5K

0
400
800
1200
1600
2000
2098 a.a.

Protein Preferred Names	Protein 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 containing serine-protein kinase PIKFYVE type III PIP kinase zinc finger, FYVE domain containing 29

PIKFYVE Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	PIKFYVE	Q9Y2I7	VAC14	Homo sapiens	Q08AM6	Y2H Array	25416956
Intra	PIKFYVE	Q9Y2I7	VAC14	Homo sapiens	Q08AM6	Validated Y2H	25416956
Intra	PIKFYVE	Q9Y2I7	VAC14	Homo sapiens	Q08AM6	Y2H Array	29892012
Intra	PIKFYVE	Q9Y2I7	VAC14	Homo sapiens	Q08AM6	Y2H	19037259
Intra	PIKFYVE	Q9Y2I7	VAC14	Homo sapiens	Q08AM6	Y2H Prey Pooling	25416956
Intra	PIKFYVE	Q9Y2I7	FIG4	Homo sapiens	Q92562	Anti Tag CoIP	35271311

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Stromal Dystrophy
Corneal Dystrophy, Groenouw Type I	CDGG1 Gcd1 Groenouw Corneal Dystrophy Type I Granular Corneal Dystrophy 1 Granular Corneal Dystrophy Type I Corneal Dystrophy Groenouw Type I Granular Corneal Dystrophy, Type I Corneal Dystrophy, Punctate Or Nodular Groenouw Type I Corneal Dystrophy Corneal Dystrophy Granular Type Corneal Dystrophy Punctate Or Nodular Classic Gcd Classic Granular Corneal Dystrophy Gcdi Granular Corneal Dystrophy Type 1 Corneal Dystrophy, Groenouw Type 1 Mesh D003317 Punctate Or Nodular Corneal Dystrophy Dystrophy, Corneal, Groenouw Type I
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Secondary Corneal Edema
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Myopathy, Centronuclear, X-Linked	X-Linked Myotubular Myopathy Xlmtm X-Linked Centronuclear Myopathy Xlcnm CNMX Mtm1 Myotubular Myopathy, X-Linked Mtmx Myotubular Myopathy 1 Centronuclear Myopathy X-Linked Myotubular Myopathy Mtm Cnm Xmtm Myotubular Myopathy Type 1
Granular Corneal Dystrophy	Granular Dystrophy Corneal Corneal Dystrophies, Hereditary Hereditary Corneal Dystrophy Corneal Dystrophy Nos Familial Hereditary Corneal Degeneration Hereditary Corneal Opacity
Charcot-Marie-Tooth Disease, Type 4j	Charcot-Marie-Tooth Disease Type 4j CMT4J Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j Charcot-Marie-Tooth Disease 4j
Yunis-Varon Syndrome	Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia Yunis Varon Syndrome YVS Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia Yunis-Varón Syndrome
Striatonigral Degeneration
Charcot-Marie-Tooth Disease, Type 4b1	Charcot-Marie-Tooth Disease Type 4b1 CMT4B1 Cmt4b Charcot-Marie-Tooth Neuropathy Type 4b1 Charcot-Marie-Tooth Disease Type 4b Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1 Charcot-Marie-Tooth Neuropathy, Type 4b1 Charcot-Marie-Tooth Disease, Type 4b Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1 Charcot-Marie-Tooth Disease 4b1 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
Corneal Dystrophy, Fleck	Fleck Corneal Dystrophy Fcd CFD Corneal Fleck Dystrophy Francois-Neetens Speckled Corneal Dystrophy Corneal Dystrophy, Francois-Neetens Speckled Or Flecked Corneal Dystrophy Francois-Neetens Speckled Or Flecked Dystrophy, Corneal, Fleck
Lowe Oculocerebrorenal Syndrome	Lowe Syndrome Oculocerebrorenal Syndrome OCRL Oculocerebrorenal Syndrome Of Lowe Ocrl1 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Lowe Disease Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency Cerebrooculorenal Syndrome Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency Lowe Oculo-Cerebro-Renal Dystrophy Lowe Oculo-Cerebro-Renal Syndrome Lowe Oculocerebrorenal Dystrophy Low Chromosome 11p Deletion Syndrome Oculocerebrorenal Dystrophy Cerebro-Oculorenal Dystrophy Ocrl1 - [Oculocerebrorenal Syndrome] Lowe-Terrey-Maclachlan Syndrome Renal-Oculocerebrodystrophy
Mucolipidosis
Mucolipidosis Iv	Mucolipidosis Type Iv ML4 Sialolipidosis Mucolipidosis Type 4 Ganglioside Sialidase Deficiency Mliv Ml Iv Berman Syndrome Ganglioside Neuraminidase Deficiency Ml 4 Mucolipidosis 4 Type Iv Mucolipidosis Gangliosidoses
Corneal Dystrophy
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Stromal Corneal Dystrophy	Stromal Dystrophies Corneal
Charcot-Marie-Tooth Disease, Type 4b2	Charcot-Marie-Tooth Disease Type 4b2 CMT4B2 Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2 Charcot-Marie-Tooth Neuropathy, Type 4b2 Charcot-Marie-Tooth Neuropathy Type 4b2 Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2 Cmt 4b2 Charcot Marie Tooth Disease Type 4b2 Charcot-Marie-Tooth Disease 4b2 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
Charcot-Marie-Tooth Disease, Type 4b3	Charcot-Marie-Tooth Disease Type 4b3 CMT4B3 Charcot-Marie-Tooth Disease With Focally Folded Myelin Charcot-Marie-Tooth Disease 4b3 Charcot-Marie-Tooth Neuropathy Type 4b3

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-14644	Apilimod	Inhibitor	99.80%	Phase 2
HY-14644A	Apilimod mesylate	Inhibitor	99.58%	Phase 2

Pre-clinical Phase

Bioactive Molecules (18)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-118630	Vacuolin-1	Inhibitor	98.54%	Unkown
HY-13228	YM-201636	Inhibitor	98.07%	Unkown
HY-15982	APY0201	Inhibitor	99.42%	Unkown
HY-119624	MOMIPP	Inhibitor	99.00%	Unkown
HY-155994	PIK5-12d	Degrader	99.15%	Unkown
HY-151473	PIKfyve-IN-1	Inhibitor	99.64%	Unkown
HY-160477	DC-SX029	Inhibitor	98.07%	Unkown
HY-153119	TMX-4153	Degrader	98.96%	Unkown
HY-161619	RMC-113	Inhibitor	99.54%	Unkown
HY-159625	WX8	Inhibitor	99.43%	Unkown
HY-154956	PIKfyve-IN-2	Inhibitor	98.0%	Unkown
HY-163943	UNI418	Inhibitor	99.61%	Unkown
HY-163133	PIKfyve-IN-3		99.55%	Unkown
HY-170909	PIKfyve-IN-4	Inhibitor	99.53%	Unkown
HY-123876	AS2677131	Inhibitor	/	Unkown
HY-177432	TMX-4140	Inhibitor	/	Unkown
HY-177091	AS2795440	Inhibitor	/	Unkown
HY-175631	PIKfyve ligand-1	Degrader	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PIKFYVE	VGNC	VGNC:44564
Bos taurus	PIKFYVE	VGNC	VGNC:32898
Rattus norvegicus	PIKFYVE	RGD	RGD:1592067
Mus musculus	PIKFYVE	MGD	MGI:1335106
Macaca mulatta	PIKFYVE	VGNC	VGNC:75854
Others	PIKFYVE	NCBI