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PIKFYVE

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GENERAL INFORMATION

Gene name

 PIKFYVE

Gene description

 Phosphoinositide kinase, FYVE finger containing

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the nuclear speckles.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nuclear speckles (uncertain)

DATA RELIABILITY

Reliability score

 Uncertain based on 1 antibody.
HPA042604
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the nuclear speckles.

Main location

 Nuclear speckles (uncertain)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA042604 A-431 Nuclear speckles
HPA042604 U-2 OS Nuclear speckles
HPA042604 U-251 MG Nuclear speckles

GENE INFORMATION

Gene name

 PIKFYVE (HGNC Symbol)

Synonyms

 FAB1, KIAA0981, MGC40423, p235, PIKfyve, PIP5K, PIP5K3, ZFYVE29

Description

 Phosphoinositide kinase, FYVE finger containing (HGNC Symbol)

Entrez gene 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]

Chromosome

 2

Cytoband

 q34

Chromosome location (bp)

 208266267 - 208358751

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000115020 (version 83.38)

Entrez gene

 200576

UniProt

 Q9Y2I7 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9Y2I7

Antibodypedia

 PIKFYVE antibodies

PROTEIN BROWSER
PIKFYVE-001
PIKFYVE-002
PIKFYVE-004
PIKFYVE-005
PIKFYVE-006
PIKFYVE-009

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PIKFYVE-001
ENSP00000264380
ENST00000264380
Q9Y2I7 [Direct mapping]
1-phosphatidylinositol 3-phosphate 5-kinase
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0000285 [1-phosphatidylinositol-3-phosphate 5-kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005829 [cytosol]
GO:0005911 [cell-cell junction]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0008270 [zinc ion binding]
GO:0010008 [endosome membrane]
GO:0012506 [vesicle membrane]
GO:0016307 [phosphatidylinositol phosphate kinase activity]
GO:0016308 [1-phosphatidylinositol-4-phosphate 5-kinase activity]
GO:0031410 [cytoplasmic vesicle]
GO:0031901 [early endosome membrane]
GO:0031902 [late endosome membrane]
GO:0032288 [myelin assembly]
GO:0034504 [protein localization to nucleus]
GO:0035556 [intracellular signal transduction]
GO:0036092 [phosphatidylinositol-3-phosphate biosynthetic process]
GO:0042147 [retrograde transport, endosome to Golgi]
GO:0043813 [phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity]
GO:0044281 [small molecule metabolic process]
GO:0045121 [membrane raft]
GO:0046488 [phosphatidylinositol metabolic process]
GO:0046854 [phosphatidylinositol phosphorylation]
GO:0046872 [metal ion binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:1904562 [phosphatidylinositol 5-phosphate metabolic process]
GO:2000785 [regulation of autophagosome assembly]
Show all
 2098 aa
237.1 kDa 		No 0
PIKFYVE-002
ENSP00000376038
ENST00000392202
Q9Y2I7 [Direct mapping]
1-phosphatidylinositol 3-phosphate 5-kinase
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0000285 [1-phosphatidylinositol-3-phosphate 5-kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0010008 [endosome membrane]
GO:0016308 [1-phosphatidylinositol-4-phosphate 5-kinase activity]
GO:0031901 [early endosome membrane]
GO:0031902 [late endosome membrane]
GO:0034504 [protein localization to nucleus]
GO:0035556 [intracellular signal transduction]
GO:0036092 [phosphatidylinositol-3-phosphate biosynthetic process]
GO:0042147 [retrograde transport, endosome to Golgi]
GO:0043813 [phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity]
GO:0044281 [small molecule metabolic process]
GO:0045121 [membrane raft]
GO:0046854 [phosphatidylinositol phosphorylation]
GO:0046872 [metal ion binding]
GO:1904562 [phosphatidylinositol 5-phosphate metabolic process]
GO:2000785 [regulation of autophagosome assembly]
Show all
 451 aa
50.2 kDa 		No 0
PIKFYVE-004
ENSP00000384356
ENST00000407449
Q9Y2I7 [Direct mapping]
1-phosphatidylinositol 3-phosphate 5-kinase
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0000285 [1-phosphatidylinositol-3-phosphate 5-kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0010008 [endosome membrane]
GO:0016308 [1-phosphatidylinositol-4-phosphate 5-kinase activity]
GO:0031901 [early endosome membrane]
GO:0031902 [late endosome membrane]
GO:0034504 [protein localization to nucleus]
GO:0035556 [intracellular signal transduction]
GO:0036092 [phosphatidylinositol-3-phosphate biosynthetic process]
GO:0042147 [retrograde transport, endosome to Golgi]
GO:0043813 [phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity]
GO:0044281 [small molecule metabolic process]
GO:0045121 [membrane raft]
GO:0046854 [phosphatidylinositol phosphorylation]
GO:0046872 [metal ion binding]
GO:1904562 [phosphatidylinositol 5-phosphate metabolic process]
GO:2000785 [regulation of autophagosome assembly]
Show all
 548 aa
61.6 kDa 		No 0
PIKFYVE-005
ENSP00000308715
ENST00000308862
Q9Y2I7 [Direct mapping]
1-phosphatidylinositol 3-phosphate 5-kinase
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0000285 [1-phosphatidylinositol-3-phosphate 5-kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0010008 [endosome membrane]
GO:0016308 [1-phosphatidylinositol-4-phosphate 5-kinase activity]
GO:0031901 [early endosome membrane]
GO:0031902 [late endosome membrane]
GO:0034504 [protein localization to nucleus]
GO:0035556 [intracellular signal transduction]
GO:0036092 [phosphatidylinositol-3-phosphate biosynthetic process]
GO:0042147 [retrograde transport, endosome to Golgi]
GO:0043813 [phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity]
GO:0044281 [small molecule metabolic process]
GO:0045121 [membrane raft]
GO:0046854 [phosphatidylinositol phosphorylation]
GO:0046872 [metal ion binding]
GO:1904562 [phosphatidylinositol 5-phosphate metabolic process]
GO:2000785 [regulation of autophagosome assembly]
Show all
 462 aa
51.5 kDa 		No 0
PIKFYVE-006
ENSP00000405736
ENST00000452564
E9PDH4 [Direct mapping]
1-phosphatidylinositol 3-phosphate 5-kinase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005622 [intracellular]
GO:0035556 [intracellular signal transduction]
GO:0046872 [metal ion binding]
Show all
 1384 aa
157 kDa 		No 0
PIKFYVE-009
ENSP00000414477
ENST00000422495
C9JL08 [Direct mapping]
1-phosphatidylinositol 3-phosphate 5-kinase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0046872 [metal ion binding]
Show all
 241 aa
27.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.