Entity Details

Primary name PI4KA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP42356
EntryNamePI4KA_HUMAN
FullNamePhosphatidylinositol 4-kinase alpha
TaxID9606
Evidenceevidence at protein level
Length2102
SequenceStatuscomplete
DateCreated1995-11-01
DateModified2021-06-02

Ontological Relatives

GenesPI4KA

GO terms

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GOName
GO:0004430 1-phosphatidylinositol 4-kinase activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0006661 phosphatidylinositol biosynthetic process
GO:0007165 signal transduction
GO:0016020 membrane
GO:0016301 kinase activity
GO:0016310 phosphorylation
GO:0030660 Golgi-associated vesicle membrane
GO:0039694 viral RNA genome replication
GO:0044803 multi-organism membrane organization
GO:0045296 cadherin binding
GO:0046786 viral replication complex formation and maintenance
GO:0046854 phosphatidylinositol phosphate biosynthetic process
GO:0048015 phosphatidylinositol-mediated signaling
GO:0052742 phosphatidylinositol kinase activity
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic domainDomainDomain
IPR001263 Phosphoinositide 3-kinase, accessory (PIK) domainDomainDomain
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR015433 Phosphatidylinositol kinaseFamilyFamily
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR018936 Phosphatidylinositol 3/4-kinase, conserved siteSiteConserved site
IPR036940 Phosphatidylinositol 3-/4-kinase, catalytic domain superfamilyFamilyHomologous superfamily
IPR042236 Phosphoinositide 3-kinase, accessory (PIK) domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
616531 OMIMPolymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (PMGYCHA)A form of polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. PMGYCHA patients manifest perisylvian polymicrogyria, cerebellar hypoplasia or dysplasia, and variable contractures of the limbs or fingers. The disease is caused by variants affecting the gene represented in this entry.