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Information on EC 2.7.1.137 - phosphatidylinositol 3-kinase

for references in articles please use BRENDA:EC2.7.1.137
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EC Tree
IUBMB Comments
One mammalian isoform is known.
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This record set is specific for:
UNIPROT: O00459
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Word Map
The enzyme appears in viruses and cellular organisms
Synonyms
pi3k, phosphatidylinositol 3-kinase, pi3 kinase, vps34, phosphoinositide-3-kinase, phosphatidylinositol 3 kinase, ptdins 3-kinase, pik3c3, phosphatidylinositide 3-kinase, hvps34, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
phosphoinositide-3-kinase
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kinase (phosphorylating), phosphatidylinositol 3-
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kinase, phosphatidylinositol 3- (phosphorylating)
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p85/p110 phosphoinositide 3-kinase
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phosphatidylinositol 3'-kinase
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phosphatidylinositol 3-kinase
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phosphoinositide 3'-kinase
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phosphoinositide 3-kinase
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PI 3-kinase
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PI3K
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PtdIns 3'-kinase
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
phospho group transfer
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PATHWAY SOURCE
PATHWAYS
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SYSTEMATIC NAME
IUBMB Comments
ATP:1-phosphatidyl-1D-myo-inositol 3-phosphotransferase
One mammalian isoform is known.
CAS REGISTRY NUMBER
COMMENTARY hide
115926-52-8
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ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
gene PIK3R2
UniProt
Manually annotated by BRENDA team
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
malfunction
enzyme mutations are involved in bilateral perisylvian polymicrogyria (BPP), the most common form of regional polymicrogyria, that causes the congenital bilateral perisylvian syndrome, featuring oromotor dysfunction, cognitive impairment, and epilepsy. Constitutional and mosaic mutations in the PIK3R2 gene are associated with developmental brain disorders ranging from BPP with a normal head size to the MPPH syndrome. They occur primarily in the caucasian white genotype, phenotypes, overview
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
P85B_HUMAN
728
0
81545
Swiss-Prot
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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
G373R
naturally occuring mutation in gene PIK3R2 involved in bilateral perisylvian polymicrogyria
K376E
naturally occuring mutation in gene PIK3R2 involved in bilateral perisylvian polymicrogyria
additional information
CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
gene PIK3R2
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Mirzaa, G.M.; Conti, V.; Timms, A.E.; Smyser, C.D.; Ahmed, S.; Carter, M.; Barnett, S.; Hufnagel, R.B.; Goldstein, A.; Narumi-Kishimoto, Y.; Olds, C.; Collins, S.; Johnston, K.; Deleuze, J.F.; Nitschke, P.; Friend, K.; Harris, C.; Goetsch, A.; Martin, B.; Boyle, E.A.; Parrini, E.; Mei, D.; Tattini, L.; Slavotinek, A.; Blair, E.; Barnett, C.; Shendure, J.; Chelly, J.; Dobyns, W.B.; Guerrini, R.
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
Lancet Neurol.
14
1182-1195
2015
Homo sapiens (O00459), Homo sapiens
Manually annotated by BRENDA team