Pip4k2a phosphatidylinositol-5-phosphate 4-kinase, type II, alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pip4k2aprovided by MGI
Official Full Name: phosphatidylinositol-5-phosphate 4-kinase, type II, alphaprovided by MGI
Primary source: MGI:MGI:1298206
See related: Ensembl:ENSMUSG00000026737 AllianceGenome:MGI:1298206
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: Pip5k2a
Summary: Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity; 1-phosphatidylinositol-5-phosphate 4-kinase activity; and protein homodimerization activity. Involved in autophagosome-lysosome fusion; megakaryocyte development; and regulation of autophagy. Located in lysosome. Is expressed in several structures, including alimentary system; genitourinary system; liver; nervous system; and nose. Orthologous to human PIP4K2A (phosphatidylinositol-5-phosphate 4-kinase type 2 alpha). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thymus adult (RPKM 11.5), cerebellum adult (RPKM 9.3) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2; 2 A3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (18847066..19003101, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (18842255..18998291, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

PIP4K2A to be essential for the clonogenic and leukemia-initiating potential of human AML cells, and for the clonogenic potential of murine MLL-AF9 AML cells.
Title: A targeted knockdown screen of genes coding for phosphoinositide modulators identifies PIP4K2A as required for acute myeloid leukemia cell proliferation and survival.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Gene trapped (1)
Targeted (3) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pip4k2a (e-PCR), detects polymorphism
- UniSTS:507140

D2Mit512 (e-PCR), detects polymorphism
- UniSTS:129431

AW742916 (e-PCR)
- UniSTS:207292

AI314891 (e-PCR)
- UniSTS:158922

AB009615 (e-PCR)
- UniSTS:158923

D2Mit362 (e-PCR), detects polymorphism
- UniSTS:129257

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol-4-phosphate 5-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-phosphatidylinositol-4-phosphate 5-kinase activity	ISO Inferred from Sequence Orthology more info
enables 1-phosphatidylinositol-5-phosphate 4-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-phosphatidylinositol-5-phosphate 4-kinase activity	ISO Inferred from Sequence Orthology more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol kinase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in autophagosome-lysosome fusion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in megakaryocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of insulin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylinositol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of autophagosome assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated cholesterol transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in autophagosome	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation 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

General protein information

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Preferred Names: phosphatidylinositol 5-phosphate 4-kinase type-2 alpha

Names: 1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha; PI(5)P 4-kinase type II alpha; PI5P4Kalpha; PIP4KII-alpha; diphosphoinositide kinase 2-alpha; phosphatidylinositol-4-phosphate 5-kinase, type II, alpha

NP_001342075.1

EC 2.7.1.149

NP_001342076.1

EC 2.7.1.149

NP_001342077.1

EC 2.7.1.149

NP_001342078.1

EC 2.7.1.149

NP_032871.3

EC 2.7.1.149

XP_006497457.1

EC 2.7.1.149

XP_006497459.1

EC 2.7.1.149

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_001355146.1 → NP_001342075.1 phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL844855, AL928653, AL928680

UniProtKB/TrEMBL

Q9CZS7

Conserved Domains (1) summary

smart00330
Location:62 → 392

PIPKc; Phosphatidylinositol phosphate kinases
NM_001355147.1 → NP_001342076.1 phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL844855, AL928653, AL928680

UniProtKB/TrEMBL

Q9CZS7

Conserved Domains (1) summary

cl28923
Location:27 → 352

PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
NM_001355148.1 → NP_001342077.1 phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL844855, AL928653, AL928680

Conserved Domains (1) summary

cl02572
Location:34 → 220

PIPKc; Phosphatidylinositol phosphate kinases (PIPK) catalyze the phosphorylation of phosphatidylinositol phosphate on the fourth or fifth hydroxyl of the inositol ring, to form phosphatidylinositol bisphosphate. CD alignment includes type II ...
NM_001355149.1 → NP_001342078.1 phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (5) containss an alternate exon compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AL844855, AL928653, AL928680

Conserved Domains (1) summary

cl28923
Location:1 → 249

PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
NM_008845.4 → NP_032871.3 phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 1

See identical proteins and their annotated locations for NP_032871.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK040558, AL844855

Consensus CDS

CCDS15712.1

UniProtKB/Swiss-Prot

O70172

UniProtKB/TrEMBL

Q544E3, Q9CZS7

Related

ENSMUSP00000006912.6, ENSMUST00000006912.12

Conserved Domains (1) summary

smart00330
Location:62 → 405

PIPKc; Phosphatidylinositol phosphate kinases

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_000068.8 Reference GRCm39 C57BL/6J

Range

18847066..19003101 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006497396.5 → XP_006497459.1 phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X2

UniProtKB/TrEMBL

Q9CZS7

Conserved Domains (1) summary

cl28923
Location:27 → 341

PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
XM_006497394.5 → XP_006497457.1 phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X1

UniProtKB/TrEMBL

Q9CZS7

Conserved Domains (1) summary

cl28923
Location:27 → 354

PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family