PIKFYVE (phosphoinositide kinase, FYVE-type zinc finger containing)

2009-05-01  

Identity

HGNC
PIKFYVE
LOCATION
2q34
LOCUSID
200576
ALIAS
CFD,FAB1,HEL37,PIP5K,PIP5K3,ZFYVE29
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 200576
MIM: 609414
HGNC: 23785
Ensembl: ENSG00000115020

Variants:

dbSNP: 200576
ClinVar: 200576
TCGA: ENSG00000115020
COSMIC: PIKFYVE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115020ENST00000264380Q9Y2I7
ENSG00000115020ENST00000308862Q9Y2I7
ENSG00000115020ENST00000392202Q9Y2I7
ENSG00000115020ENST00000407449Q9Y2I7
ENSG00000115020ENST00000422495C9JL08
ENSG00000115020ENST00000443896F8WEZ0
ENSG00000115020ENST00000452564E9PDH4

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Regulation of actin cytoskeletonKEGGko04810
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Regulation of actin cytoskeletonKEGGhsa04810
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the Golgi membraneREACTOMER-HSA-1660514
Synthesis of PIPs at the early endosome membraneREACTOMER-HSA-1660516
Synthesis of PIPs at the late endosome membraneREACTOMER-HSA-1660517

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
169541482006The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport.85
184299272008Endosomal phosphoinositides and human diseases.63
195829032009PIKfyve regulation of endosome-linked pathways.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
168016822006The phosphoinositide kinase PIKfyve/Fab1p regulates terminal lysosome maturation in Caenorhabditis elegans.59
145512532003PIKfyve controls fluid phase endocytosis but not recycling/degradation of endocytosed receptors or sorting of procathepsin D by regulating multivesicular body morphogenesis.51
274388862016PIKfyve inhibition increases exosome release and induces secretory autophagy.38
189506392008ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality.33
159026562005Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.32
155428512004A mammalian ortholog of Saccharomyces cerevisiae Vac14 that associates with and up-regulates PIKfyve phosphoinositide 5-kinase activity.31

Citation

Dessen P

PIKFYVE (phosphoinositide kinase, FYVE-type zinc finger containing)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50888/pikfyve