Entity Details

Primary name P3C2A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO00443
EntryNameP3C2A_HUMAN
FullNamePhosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha
TaxID9606
Evidenceevidence at protein level
Length1686
SequenceStatuscomplete
DateCreated2005-08-30
DateModified2021-06-02

Ontological Relatives

GenesPIK3C2A

GO terms

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GOName
GO:0005524 ATP binding
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005942 phosphatidylinositol 3-kinase complex
GO:0006661 phosphatidylinositol biosynthetic process
GO:0006887 exocytosis
GO:0006897 endocytosis
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0008286 insulin receptor signaling pathway
GO:0010508 positive regulation of autophagy
GO:0014065 phosphatidylinositol 3-kinase signaling
GO:0014829 vascular associated smooth muscle contraction
GO:0016020 membrane
GO:0016303 1-phosphatidylinositol-3-kinase activity
GO:0016477 cell migration
GO:0030136 clathrin-coated vesicle
GO:0030276 clathrin binding
GO:0031982 vesicle
GO:0035004 phosphatidylinositol 3-kinase activity
GO:0035005 1-phosphatidylinositol-4-phosphate 3-kinase activity
GO:0035091 phosphatidylinositol binding
GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process
GO:0043231 intracellular membrane-bounded organelle
GO:0046854 phosphatidylinositol phosphate biosynthetic process
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity
GO:0048008 platelet-derived growth factor receptor signaling pathway
GO:0048015 phosphatidylinositol-mediated signaling
GO:0048268 clathrin coat assembly
GO:0052742 phosphatidylinositol kinase activity
GO:0052812 phosphatidylinositol-3,4-bisphosphate 5-kinase activity
GO:0061024 membrane organization
GO:0070062 extracellular exosome
GO:0090050 positive regulation of cell migration involved in sprouting angiogenesis

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm
Cytoplasmic vesicle
Golgi apparatus
Nucleus

Domains

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DomainNameCategoryType
IPR000008 C2 domainDomainDomain
IPR000341 Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domainDomainDomain
IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic domainDomainDomain
IPR001263 Phosphoinositide 3-kinase, accessory (PIK) domainDomainDomain
IPR001683 Phox homologyDomainDomain
IPR002420 C2 phosphatidylinositol 3-kinase-type domainDomainDomain
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR015433 Phosphatidylinositol kinaseFamilyFamily
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR018936 Phosphatidylinositol 3/4-kinase, conserved siteSiteConserved site
IPR029071 Ubiquitin-like domain superfamilyFamilyHomologous superfamily
IPR035892 C2 domain superfamilyFamilyHomologous superfamily
IPR036871 PX domain superfamilyFamilyHomologous superfamily
IPR036940 Phosphatidylinositol 3-/4-kinase, catalytic domain superfamilyFamilyHomologous superfamily
IPR037705 PI3K-C2-alpha, catalytic domainDomainDomain
IPR042133 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha, PX domainDomainDomain
IPR042236 Phosphoinositide 3-kinase, accessory (PIK) domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618440 OMIMOculoskeletodental syndrome (OCSKD)An autosomal recessive syndrome characterized by congenital cataracts, short stature, dysmorphic features with coarse facies, dental anomalies, multiple skeletal abnormalities, and neurological manifestations. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis. The disease is caused by variants affecting the gene represented in this entry.