PIP5K1A phosphatidylinositol-4-phosphate 5-kinase, type I, alpha [Homo sapiens] - Gene

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Summary

Official Symbol: PIP5K1Aprovided by HGNC
Official Full Name: phosphatidylinositol-4-phosphate 5-kinase, type I, alphaprovided by HGNC
Primary source: HGNC:8994
Locus tag: RP11-68I18.9
See related: Ensembl:ENSG00000143398; MIM:603275; Vega:OTTHUMG00000012351
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

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Genomic context

Location :: 1q21.3

Sequence :: Chromosome: 1; NC_000001.10 (151171021..151222007)

See PIP5K1A in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Results define the role of PIPKI-alpha in cell migration and describes a new mechanism for the spatial regulation of Rac1 activity that is critical for cell migration.
Title: Type I PIPK-alpha regulates directed cell migration by modulating Rac1 plasma membrane targeting and activation.
Localized production of Phosphatidylinositol 4,5-bisphosphate by PIP5K1A is required for invadopodia formation by breast cancer cells.
Title: Phosphatidylinositol 4,5-bisphosphate and PIP5-kinase Ialpha are required for invadopodia formation in human breast cancer cells.
Extracellular calcium (Cao) stimulated PIP5K1alpha recruitment to the E-cadherin-catenin complex in the plasma membrane.
Title: Phosphatidylinositol-4-phosphate 5-kinase 1alpha mediates extracellular calcium-induced keratinocyte differentiation.
The data suggest that activation of FcgammaRIIA leads to membrane rafts coalescing into signaling platforms containing PIP5-kinase Ialpha and PI(4,5)P(2).
Title: Contribution of PIP-5 kinase Ialpha to raft-based FcgammaRIIA signaling.
PI4P5-K Ialpha-mediated PIP(2) production is crucial for HIV-1 entry and the early steps of infection in permissive lymphocytes.
Title: PI4P5-kinase Ialpha is required for efficient HIV-1 entry and infection of T cells.
beta-arrestins direct the localization of PIP5K Ialpha and PIP(2) production to agonist-activated 7TMRs, thereby regulating receptor internalization
Title: Beta-arrestin scaffolding of phosphatidylinositol 4-phosphate 5-kinase Ialpha promotes agonist-stimulated sequestration of the beta2-adrenergic receptor.
Type I phosphatidylinositol-4-phosphate-5-kinase (PI5KI) alpha and gamma isoforms were identified as the enzymes responsible for PIP2 synthesis in natural killer cells.
Title: PI5KI-dependent signals are critical regulators of the cytolytic secretory pathway.
in addition to its effects upon Rac activity, Ajuba can also influence cell migration through regulation of PI(4,5)P2 synthesis through direct activation of PIPKIalpha enzyme activity
Title: The LIM protein Ajuba regulates phosphatidylinositol 4,5-bisphosphate levels in migrating cells through an interaction with and activation of PIPKI alpha.
Membrane ruffling requires coordination between this enzyme and Rac signaling.
Title: Membrane ruffling requires coordination between type Ialpha phosphatidylinositol phosphate kinase and Rac signaling.
identified apoptotic stimuli that initiate a signaling pathway during cell death that leads to caspase-independent downregulation of PIP5Kalpha.
Title: A role for PtdIns(4,5)P2 and PIP5Kalpha in regulating stress-induced apoptosis.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q99755	P84077	ARF1	HPRD	PubMed
Q99755	P84085	ARF5	HPRD	PubMed
Q99755	P62330	ARF6	HPRD	PubMed
Q99755	Q06187	BTK	HPRD	PubMed
Q99755	Q9ULU8	CADPS	HPRD	PubMed
Q99755	P42574	CASP3	HPRD	PubMed
Q99755	Phosphatidylinositol-4-phosphate 5-kinase-like 1	PIP5KL1	HPRD	PubMed
Q99755	Q13393	PLD1	HPRD	PubMed
Q99755	O14939	PLD2	HPRD	PubMed
Q99755	P42680	TEC	HPRD	PubMed
BioGRID:113983	BioGRID:126513	PIP5KL1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113983	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
1-phosphatidylinositol-4-phosphate 5-kinase activity	IDA Inferred from Direct Assay more info	PubMed
1-phosphatidylinositol-4-phosphate 5-kinase activity	TAS Traceable Author Statement more info	PubMed
ATP binding	IEA Inferred from Electronic Annotation more info
kinase binding	IDA Inferred from Direct Assay more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
actin cytoskeleton reorganization	IMP Inferred from Mutant Phenotype more info
activation of Rac GTPase activity	IMP Inferred from Mutant Phenotype more info
cell chemotaxis	IMP Inferred from Mutant Phenotype more info
cell migration	NAS Non-traceable Author Statement more info	PubMed
fibroblast migration	IEA Inferred from Electronic Annotation more info
focal adhesion assembly	IMP Inferred from Mutant Phenotype more info
glycerophospholipid metabolic process	TAS Traceable Author Statement more info	PubMed
keratinocyte differentiation	TAS Traceable Author Statement more info	PubMed
phagocytosis	TAS Traceable Author Statement more info	PubMed
phospholipid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
phosphorylation	NAS Non-traceable Author Statement more info
protein targeting to plasma membrane	IMP Inferred from Mutant Phenotype more info
ruffle assembly	IMP Inferred from Mutant Phenotype more info
signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
lamellipodium	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with mRNA cleavage and polyadenylation specificity factor complex	IDA Inferred from Direct Assay more info	PubMed
nuclear speck	IDA Inferred from Direct Assay more info	PubMed
nuclear speck	TAS Traceable Author Statement more info	PubMed
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
ruffle membrane	IDA Inferred from Direct Assay more info

General protein information

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

Names: phosphatidylinositol 4-phosphate 5-kinase type-1 alpha; PIP5KIalpha; PIP5K1-alpha; ptdIns(4)P-5-kinase 1 alpha; phosphatidylinositol 4-phosphate 5-kinase type I alpha; phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; 68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alpha; 68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha

NP_001129108.1

EC 2.7.1.68

NP_001129109.1

EC 2.7.1.68

NP_001129110.1

EC 2.7.1.68

NP_003548.1

EC 2.7.1.68

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NCBI Reference Sequences (RefSeq)

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_001135636.1 → NP_001129108.1 phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two in-frame coding exons, as compared to variant 1. The resulting isoform (3) is shorter but has identical N- and C-termini, as compared to isoform 1.

Source sequence(s)

AK291015, AK295691, AK309826, BC007833, DA759212, U78576

Consensus CDS

CCDS44220.1

UniProtKB/Swiss-Prot

Q99755

Related

ENSP00000415648, OTTHUMP00000235065, ENST00000441902, OTTHUMT00000392973

Conserved Domains (1) summary

cd00139
Location:70 – 410
Blast Score: 955

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_001135637.1 → NP_001129109.1 phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks 3 nt at an alternate splice site and two in-frame exons in the CDS, as compared to variant 1. The resulting isoform (4) is shorter but has identical N- and C-termini, as compared to isoform 1.

Source sequence(s)

AK309826, BC007833, DA759212, U78575, U78577

Consensus CDS

CCDS44221.1

UniProtKB/Swiss-Prot

Q99755

Related

ENSP00000357885, OTTHUMP00000014289, ENST00000368890, OTTHUMT00000034423

Conserved Domains (2) summary

cd00139
Location:69 – 320
Blast Score: 868

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 ...

cl02572
Location:381 – 437
Blast Score: 206

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_001135638.1 → NP_001129110.1 phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 1

Status: VALIDATED

Description

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

Source sequence(s)

AK309826, BC007833, DA759212, U78576

Consensus CDS

CCDS44219.1

UniProtKB/Swiss-Prot

Q99755

Related

ENSP00000357883, OTTHUMP00000014291, ENST00000368888, OTTHUMT00000034425

Conserved Domains (2) summary

cd00139
Location:82 – 333
Blast Score: 873

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 ...

cl02572
Location:394 – 450
Blast Score: 207

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_003557.2 → NP_003548.1 phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks 3 nt at an alternate splice site and an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (2) is shorter but has identical N- and C-termini, as compared to isoform 1.

Source sequence(s)

AK291015, AK309826, BC007833, DA759212

Consensus CDS

CCDS990.1

UniProtKB/Swiss-Prot

Q99755

Related

ENSP00000271663, OTTHUMP00000014290, ENST00000349792, OTTHUMT00000034424

Conserved Domains (2) summary

cd00139
Location:69 – 320
Blast Score: 873

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 ...

cl02572
Location:381 – 437
Blast Score: 207

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 ...

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

151171021..151222007

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

122549129..122599938

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL592424.13	CAI16386.1
		CAI16387.1
		CAI16388.1
		CAO72043.1
		CAO72045.1
genomic	CH471121.2	EAW53459.1
		EAW53460.1
		EAW53461.1
mRNA	AF085856.1	None
mRNA	AK291015.1	BAF83704.1
mRNA	AK295691.1	BAG58542.1
mRNA	AK302268.1	BAG63614.1
mRNA	AK309826.1	None
mRNA	BC007833.2	AAH07833.1
mRNA	DA759212.1	None
mRNA	DQ656041.2	None
mRNA	U78575.1	AAC50910.1
mRNA	U78576.1	AAC50911.1
mRNA	U78577.1	AAC50912.1
mRNA	U78578.1	AAC50913.1