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

Homo sapiens

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

Gene ID: 200576 | Gene type: protein coding

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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-14644	Apilimod	Inhibitor	99.55%	Phase 2
HY-14644A	Apilimod mesylate	Inhibitor	99.83%	Phase 2

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13228	YM-201636	Inhibitor	98.06%	Unkown
HY-118630	Vacuolin-1	Inhibitor	98.93%	Unkown
HY-15982	APY0201	Inhibitor	99.93%	Unkown
HY-119624	MOMIPP	Inhibitor	99.37%	Unkown
HY-155994	PIK5-12d	Degrader	99.90%	Unkown
HY-151473	PIKfyve-IN-1	Inhibitor	99.64%	Unkown
HY-163133	PIKfyve-IN-3		99.55%	Unkown
HY-160477	DC-SX029	Inhibitor	/	Unkown
HY-154956	PIKfyve-IN-2	Inhibitor	/	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

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