Pi4ka phosphatidylinositol 4-kinase alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pi4kaprovided by MGI
Official Full Name: phosphatidylinositol 4-kinase alphaprovided by MGI
Primary source: MGI:MGI:2448506
See related: Ensembl:ENSMUSG00000041720 AllianceGenome:MGI:2448506
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pik4ca; PI4K-alpha
Summary: Enables 1-phosphatidylinositol 4-kinase activity. Involved in myelination in peripheral nervous system and phosphatidylinositol phosphate biosynthetic process. Acts upstream of or within Schwann cell migration and actin cytoskeleton organization. Predicted to be located in Golgi-associated vesicle membrane. Predicted to be active in cytoplasm and plasma membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 84. Orthologous to human PI4KA (phosphatidylinositol 4-kinase alpha). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in cortex adult (RPKM 25.4), frontal lobe adult (RPKM 25.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A3; 16 10.71 cM

Exon count:: 57

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (17098215..17224178, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (17280351..17406314, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Actin dynamics regulation by TTC7A/PI4KIIIalpha limits DNA damage and cell death under confinement.
Title: Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.
These studies define a role for PI4KA in myelin formation primarily affecting metabolism of key phospholipids and the actin cytoskeleton.
Title: Schwann-Cell-Specific Deletion of Phosphatidylinositol 4-Kinase Alpha Causes Aberrant Myelination.
Mutation of Pi4ka found to promote myeloid and erythroid dysfunction. Subsequent validation experiments showed that targeted inactivation of the Pi4ka catalytic domain or reduction in mRNA expression inhibited myeloid and erythroid cell differentiation in vitro and promoted anemia in vivo
Title: A Forward Genetic Screen Targeting the Endothelium Reveals a Regulatory Role for the Lipid Kinase Pi4ka in Myelo- and Erythropoiesis.
PI4KA is essential for the maintenance of plasma membrane phosphatidylinositol 4,5-bisphosphate pools but only during strong stimulation of receptors coupled to phospholipase C activation.
Title: Pharmacological and genetic targeting of the PI4KA enzyme reveals its important role in maintaining plasma membrane phosphatidylinositol 4-phosphate and phosphatidylinositol 4,5-bisphosphate levels.
It was shown that PI4KIIIalpha was targeted to the plasma membrane as part of an evolutionarily conserved complex containing Efr3/rolling blackout, which was found to be a palmitoylated peripheral membrane protein.
Title: PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity.
Loss of phosphatidylinositol 4-kinase 2alpha activity causes late onset degeneration of spinal cord axons.
Title: Loss of phosphatidylinositol 4-kinase 2alpha activity causes late onset degeneration of spinal cord axons.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2)
Endonuclease-mediated (3) 1 citation
Gene trapped (2)
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126389 (e-PCR)
- UniSTS:163097

MARC_2765-2766:991933387:1 (e-PCR)
- UniSTS:230946

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Pi4ka (e-PCR), detects polymorphism
- UniSTS:546939

AI303446 (e-PCR)
- UniSTS:180873

AA985900 (e-PCR)
- UniSTS:180874

MHAa22f12.seq (e-PCR)
- UniSTS:125096

U07425 (e-PCR)
- UniSTS:125656

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol 4-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-phosphatidylinositol 4-kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 1-phosphatidylinositol 4-kinase activity	ISO Inferred from Sequence Orthology more info
enables ATP binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Schwann cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in modulation by host of viral process	IEA Inferred from Electronic Annotation more info
involved_in modulation by host of viral process	ISO Inferred from Sequence Orthology more info
involved_in myelination in peripheral nervous system	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol phosphate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in reorganization of cellular membranes to establish viral sites of replication	IEA Inferred from Electronic Annotation more info
involved_in reorganization of cellular membranes to establish viral sites of replication	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi-associated vesicle membrane	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: phosphatidylinositol 4-kinase alpha

Names: PI4-kinase alpha; phosphatidylinositol 4-kinase, catalytic, alpha polypeptide; ptdIns-4-kinase alpha

NP_001001983.2

EC 2.7.1.67

NP_001360884.1

EC 2.7.1.67

XP_006522099.1

EC 2.7.1.67

XP_006522100.1

EC 2.7.1.67

XP_030104929.1

EC 2.7.1.67

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001001983.3 → NP_001001983.2 phosphatidylinositol 4-kinase alpha isoform 2

Status: VALIDATED

Source sequence(s)

AC110573

Consensus CDS

CCDS37271.1

UniProtKB/TrEMBL

A0A140T8I9

Related

ENSMUSP00000036162.6, ENSMUST00000036161.12

Conserved Domains (2) summary

cd00871
Location:1489 → 1664

PI4Ka; Phosphoinositide 4-kinase(PI4K), accessory domain (PIK domain); PIK domain is conserved in PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. PI4K phosphorylates hydroxylgroup at position 4 on the ...

cd05167
Location:1725 → 2043

PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha
NM_001373955.1 → NP_001360884.1 phosphatidylinositol 4-kinase alpha isoform 1

Status: VALIDATED

Source sequence(s)

AC110573, KY499708

UniProtKB/Swiss-Prot

E9Q3L2, Q3UVT5, Q6DIC7, Q7TNG2, Q80Y45

UniProtKB/TrEMBL

A0A1S6GWJ7

Related

ENSMUSP00000156049.3, ENSMUST00000232232.3

Conserved Domains (2) summary

cd00871
Location:1550 → 1725

PI4Ka; Phosphoinositide 4-kinase(PI4K), accessory domain (PIK domain); PIK domain is conserved in PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. PI4K phosphorylates hydroxylgroup at position 4 on the ...

cd05167
Location:1786 → 2104

PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

17098215..17224178 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030249069.2 → XP_030104929.1 phosphatidylinositol 4-kinase alpha isoform X1

Conserved Domains (2) summary

cd00871
Location:1381 → 1556

PI4Ka; Phosphoinositide 4-kinase(PI4K), accessory domain (PIK domain); PIK domain is conserved in PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. PI4K phosphorylates hydroxylgroup at position 4 on the ...

cd05167
Location:1617 → 1935

PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha
XM_006522037.3 → XP_006522100.1 phosphatidylinositol 4-kinase alpha isoform X3

Conserved Domains (2) summary

cd00871
Location:616 → 791

PI4Ka; Phosphoinositide 4-kinase(PI4K), accessory domain (PIK domain); PIK domain is conserved in PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. PI4K phosphorylates hydroxylgroup at position 4 on the ...

cd05167
Location:852 → 1170

PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha
XM_006522036.5 → XP_006522099.1 phosphatidylinositol 4-kinase alpha isoform X2