Pi4k2a phosphatidylinositol 4-kinase type 2 alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pi4k2aprovided by MGI
Official Full Name: phosphatidylinositol 4-kinase type 2 alphaprovided by MGI
Primary source: MGI:MGI:1934031
See related: Ensembl:ENSMUSG00000025178 AllianceGenome:MGI:1934031
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: Pi4k2
Summary: Predicted to enable 1-phosphatidylinositol 4-kinase activity; AP-3 adaptor complex binding activity; and ATP binding activity. Predicted to be involved in several processes, including basophil degranulation; endosome organization; and phosphatidylinositol phosphate biosynthetic process. Located in several cellular components, including dendrite; neuronal cell body; and presynaptic membrane. Is active in glutamatergic synapse and presynaptic active zone. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and sensory organ. Orthologous to human PI4K2A (phosphatidylinositol 4-kinase type 2 alpha). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary adult (RPKM 22.2), adrenal adult (RPKM 20.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 35.74 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (42078590..42110657)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (42090148..42122218)

Chromosome 19 - NC_000085.7 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?

Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation.
Title: Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation.
Itch directly associates with and ubiquitinates PI4KIIalpha, and both proteins colocalize on endosomes containing Wnt-activated frizzled 4 (Fz4) receptor
Title: Phosphatidylinositol 4-kinase IIα function at endosomes is regulated by the ubiquitin ligase Itch.
PI4KIIalpha is a novel regulator of tumor growth by its action on angiogenesis and HIF-1alpha regulation.
Title: PI4KIIalpha is a novel regulator of tumor growth by its action on angiogenesis and HIF-1alpha regulation.
AP-3 and BLOC-1 act, either in concert or sequentially, to specify sorting of PI4KIIalpha along the endocytic route.
Title: Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells.
The unique N terminus of PI4K type IIalpha is required for the targeting of the enzyme to cellugyrin-positive vesicles.
Title: Phosphatidylinositol 4-kinase type IIalpha is targeted specifically to cellugyrin-positive glucose transporter 4 vesicles.
PI4KIIalpha is present on adaptor protein (AP) -3 organelles where it regulates AP-3 function
Title: Phosphatidylinositol-4-kinase type II alpha is a component of adaptor protein-3-derived vesicles.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Gene trapped (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:237941 (e-PCR)
- UniSTS:237941

Pi4k2a (e-PCR), detects polymorphism
- UniSTS:546938

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	ISO Inferred from Sequence Orthology more info
enables 1-phosphatidylinositol 4-kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables AP-3 adaptor complex binding	ISO Inferred from Sequence Orthology more info
enables AP-3 adaptor complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in basophil degranulation	ISO Inferred from Sequence Orthology more info
involved_in endosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylinositol biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylinositol phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol phosphate biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylinositol phosphate biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of BLOC-1 complex	ISO Inferred from Sequence Orthology more info
part_of BLOC-1 complex	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in early endosome membrane	ISO Inferred from Sequence Orthology more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in exocytic vesicle	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in growing cell tip	ISO Inferred from Sequence Orthology more info
located_in growing cell tip	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in membrane raft	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in perikaryon	ISO Inferred from Sequence Orthology 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
is_active_in presynaptic active zone	IDA Inferred from Direct Assay more info	PubMed
located_in presynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: phosphatidylinositol 4-kinase type 2-alpha

Names: phosphatidylinositol 4-kinase type II-alpha

NP_663476.1

EC 2.7.1.67

XP_011245707.1

EC 2.7.1.67

XP_011245708.1

EC 2.7.1.67

XP_036017627.1

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_145501.2 → NP_663476.1 phosphatidylinositol 4-kinase type 2-alpha

See identical proteins and their annotated locations for NP_663476.1

Status: VALIDATED

Source sequence(s)

AC133503, AK030725, BY732177

Consensus CDS

CCDS29821.1

UniProtKB/Swiss-Prot

Q2TBE6

Related

ENSMUSP00000069284.5, ENSMUST00000066778.6

Conserved Domains (1) summary

pfam00454
Location:133 → 429

PI3_PI4_kinase; Phosphatidylinositol 3- and 4-kinase

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_000085.7 Reference GRCm39 C57BL/6J

Range

42078590..42110657

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161734.1 → XP_036017627.1 phosphatidylinositol 4-kinase type 2-alpha isoform X3

UniProtKB/TrEMBL

A0A494BBQ4

Conserved Domains (1) summary

pfam00454
Location:133 → 317

PI3_PI4_kinase; Phosphatidylinositol 3- and 4-kinase
XM_011247406.4 → XP_011245708.1 phosphatidylinositol 4-kinase type 2-alpha isoform X2

Conserved Domains (1) summary

pfam00454
Location:133 → 406

PI3_PI4_kinase; Phosphatidylinositol 3- and 4-kinase
XM_011247405.4 → XP_011245707.1 phosphatidylinositol 4-kinase type 2-alpha isoform X1

See identical proteins and their annotated locations for XP_011245707.1

UniProtKB/Swiss-Prot

Q2TBE6

Related

ENSMUSP00000158574.2, ENSMUST00000235932.2

Conserved Domains (1) summary

pfam00454
Location:133 → 429

PI3_PI4_kinase; Phosphatidylinositol 3- and 4-kinase