Pip5k1c phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pip5k1cprovided by MGI
Official Full Name: phosphatidylinositol-4-phosphate 5-kinase, type 1 gammaprovided by MGI
Primary source: MGI:MGI:1298224
See related: Ensembl:ENSMUSG00000034902 AllianceGenome:MGI:1298224
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: Pip5kIgamma
Summary: Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity. Involved in regulation of postsynaptic neurotransmitter receptor internalization and regulation of synaptic vesicle endocytosis. Acts upstream of or within axonogenesis; phosphatidylinositol biosynthetic process; and platelet aggregation. Located in cytosol. Is active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome 3. Orthologous to human PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in cortex adult (RPKM 65.2), frontal lobe adult (RPKM 55.5) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 39.72 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (81128669..81155808)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (81292835..81319974)

Chromosome 10 - NC_000076.7 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?

Loss of phosphatidylinositol-4-phosphate 5-kinase type-1 gamma (Pip5k1c) in mesenchymal stem cells leads to osteopenia by impairing bone remodeling.
Title: Loss of phosphatidylinositol-4-phosphate 5-kinase type-1 gamma (Pip5k1c) in mesenchymal stem cells leads to osteopenia by impairing bone remodeling.
Adipocyte-specific deletion of PIP5K1c reduces diet-induced obesity and insulin resistance by increasing energy expenditure.
Title: Adipocyte-specific deletion of PIP5K1c reduces diet-induced obesity and insulin resistance by increasing energy expenditure.
PIP5K1C regulates nociceptive sensitization in more regions of the nervous system than dorsal root ganglia alone
Title: Conditional deletion of Pip5k1c in sensory ganglia and effects on nociception and inflammatory sensitization.
PIPKIgamma and INPP5E localize to the centrosome and coordinate the initiation of ciliogenesis.
Title: Phosphatidylinositol phosphate kinase PIPKIγ and phosphatase INPP5E coordinate initiation of ciliogenesis.
PIPKIgamma, downstream of EGF and/or HGF receptor, participates in breast cancer progression
Title: Targeting type Iγ phosphatidylinositol phosphate kinase inhibits breast cancer metastasis.
Shp1 binds and controls PIPKIgamma activity and, thereby, modulates phosphatidylinositol (4,5)-bisphosphate levels and adhesion.
Title: Cross-Talk between Shp1 and PIPKIγ Controls Leukocyte Recruitment.
The results of this study suggest that PIP5KIgamma, especially PIP5KIgamma_i2, is localized at the periactive zone, a functionally suitable compartment for the endocytosis of synaptic vesicles in photoreceptor ribbon synapses.
Title: Preferential localization of type I phosphatidylinositol 4-phosphate 5-kinase γ at the periactive zone of mouse photoreceptor ribbon synapses.
The lipid kinase PIP5K1C regulates pain signaling and sensitization in mice.
Title: The lipid kinase PIP5K1C regulates pain signaling and sensitization.
The findings suggest an essential role of PIP5KIgamma, particularly PIP5KIgamma_i2, in neuronal migration, possibly through recruitment of adhesion components to the plasma membrane.
Title: Type I phosphatidylinositol 4-phosphate 5-kinase γ is required for neuronal migration in the mouse developing cerebral cortex.
Although PIP5KIgamma is essential for normal platelet function, individual isoforms of PIP5KIgamma fulfill unique roles for the integrin-dependent integrity of the membrane cytoskeleton and for the stabilization of platelet adhesion.
Title: Platelets lacking PIP5KIγ have normal integrin activation but impaired cytoskeletal-membrane integrity and adhesion.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

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Alleles

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

Endonuclease-mediated (2)
Gene trapped (1) 1 citation
Targeted (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI835305 (e-PCR)
- UniSTS:165708

NoName (e-PCR)
- UniSTS:236414

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	IDA Inferred from Direct Assay more info	PubMed
enables 1-phosphatidylinositol-4-phosphate 5-kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within axonogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in exocytosis	IEA Inferred from Electronic Annotation more info
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within phosphatidylinositol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within phosphatidylinositol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphatidylinositol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylinositol phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within platelet aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic vesicle endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in adherens junction	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
located_in endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in phagocytic cup	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density	IEP Inferred from Expression Pattern more info	PubMed
is_active_in postsynaptic density	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in presynaptic endocytic zone membrane	ISO Inferred from Sequence Orthology more info
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info
located_in uropod	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: phosphatidylinositol 4-phosphate 5-kinase type-1 gamma

Names: PIP5K1-gamma; phosphatidylinositol 4-phosphate 5-kinase type I gamma; ptdIns(4)P-5-kinase 1 gamma

NP_001140159.1

EC 2.7.1.68

NP_001280575.1

EC 2.7.1.68

NP_001280576.1

EC 2.7.1.68

NP_032870.2

EC 2.7.1.68

XP_030100812.1

EC 2.7.1.68

XP_036011583.1

EC 2.7.1.68

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_001146687.3 → NP_001140159.1 phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 2

See identical proteins and their annotated locations for NP_001140159.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 3' coding region, compared to variant 3. The encoded protein (isoform 2) is shorter, compared to isoform 3.

Source sequence(s)

AC155937

Consensus CDS

CCDS48643.1

UniProtKB/Swiss-Prot

O70161

Related

ENSMUSP00000124155.2, ENSMUST00000163075.8

Conserved Domains (1) summary

smart00330
Location:103 → 443

PIPKc; Phosphatidylinositol phosphate kinases
NM_001293646.2 → NP_001280575.1 phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) encodes the longest isoform (3).

Source sequence(s)

AC155937

Consensus CDS

CCDS78865.1

UniProtKB/TrEMBL

F8WHW6

Related

ENSMUSP00000038225.9, ENSMUST00000045469.15

Conserved Domains (1) summary

smart00330
Location:103 → 443

PIPKc; Phosphatidylinositol phosphate kinases
NM_001293647.2 → NP_001280576.1 phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 4

See identical proteins and their annotated locations for NP_001280576.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' and 3' coding region, and initiates translation at a downstream start codon, compared to variant 3. The encoded protein (isoform 4) is shorter, compared to isoform 3. Variants 4 and 5 both encode the same isoform (4).

Source sequence(s)

AC155937

UniProtKB/Swiss-Prot

O70161

Conserved Domains (1) summary

cd17301
Location:1 → 342

PIPKc_PIP5KI; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in type I phosphatidylinositol 4-phosphate (PtdIns(4)P) 5-kinases (PIP5KI) and similar proteins
NM_001428750.1 → NP_001415679.1 phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 4

Status: VALIDATED

Source sequence(s)

AC155937
NM_008844.4 → NP_032870.2 phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 1

See identical proteins and their annotated locations for NP_032870.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. The encoded protein (isoform 1) is shorter, compared to isoform 3.

Source sequence(s)

AC155937

Consensus CDS

CCDS35994.1

UniProtKB/Swiss-Prot

O70161, Q505A1, Q80TW9, Q8VCU5

Related

ENSMUSP00000100964.4, ENSMUST00000105327.10

Conserved Domains (1) summary

smart00330
Location:103 → 443

PIPKc; Phosphatidylinositol phosphate kinases

RNA

NR_190488.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC155937

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_000076.7 Reference GRCm39 C57BL/6J

Range

81128669..81155808

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030244952.1 → XP_030100812.1 phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X2

Conserved Domains (1) summary

cd17301
Location:1 → 342

PIPKc_PIP5KI; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in type I phosphatidylinositol 4-phosphate (PtdIns(4)P) 5-kinases (PIP5KI) and similar proteins
XM_036155690.1 → XP_036011583.1 phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X1

Conserved Domains (1) summary

cd17301
Location:1 → 342

PIPKc_PIP5KI; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in type I phosphatidylinositol 4-phosphate (PtdIns(4)P) 5-kinases (PIP5KI) and similar proteins