PI4K2A phosphatidylinositol 4-kinase type 2 alpha [Homo sapiens] - Gene

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Summary

Official Symbol: PI4K2Aprovided by HGNC
Official Full Name: phosphatidylinositol 4-kinase type 2 alphaprovided by HGNC
Primary source: HGNC:30031
See related: Ensembl:ENSG00000155252; Ensembl:ENSG00000249967; HPRD:11431; MIM:609763; Vega:OTTHUMG00000018863; Vega:OTTHUMG00000162272
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PI4KII; PIK42A; RP11-548K23.6; DKFZp761G1923
Summary: Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]

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Genomic context

Location :: 10q24

Sequence :: Chromosome: 10; NC_000010.10 (99400443..99436187)

See PI4K2A in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 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?

Knockdown of PI4KIIalpha inhibits EGF-stimulated Akt phosphorylation.
Title: Differential effects of the phosphatidylinositol 4-kinases, PI4KIIα and PI4KIIIβ, on Akt activation and apoptosis.
Results suggest that the phosphatidylinositol 4-kinase 2-alpha gene may not be a cause of autosomal recessive hereditary spastic paraplegia in humans.
Title: Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Dvl directly interacted with and activated PI4KII alpha by increasing its V(max) for ATP and PtdIns. In addition, Dvl regulated PI4KII alpha and PIP5KI via different domains.
Title: Regulation of phosphatidylinositol kinases and metabolism by Wnt3a and Dvl.
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.
both the kinase activity and the sorting signal present in PI4KIIalpha are necessary to rescue endosomal PI4KIIalpha siRNA-induced mutant phenotypes
Title: Phosphatidylinositol-4-kinase type II alpha contains an AP-3-sorting motif and a kinase domain that are both required for endosome traffic.
Association of T cell antigen CD7 with type II phosphatidylinositol-4 kinase, a key component in pathways of inositol phosphate turnover.
Title: Association of T cell antigen CD7 with type II phosphatidylinositol-4 kinase, a key component in pathways of inositol phosphate turnover.
The linkage of CD63 with PI 4-kinase type II may result in the recruitment of this signaling enzyme to specific membrane locations in the platelet where it influences phosphoinositide-dependent signaling and platelet spreading.
Title: CD63 modulates spreading and tyrosine phosphorylation of platelets on immobilized fibrinogen.
changes in membrane environment can regulate PI4KIIalpha activity.
Title: Lipid and peptide control of phosphatidylinositol 4-kinase IIalpha activity on Golgi-endosomal Rafts.

Submit: New GeneRIF Correction See all (13)

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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
Phosphatidylinositol 4 kinase type II	P08962	CD63	HPRD	PubMed
BioGRID:120639	BioGRID:107362	CD7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:120639	BioGRID:116465	GABARAP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:120639	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:120639	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
1-phosphatidylinositol 4-kinase activity	IDA Inferred from Direct Assay more info	PubMed
ATP binding	IEA Inferred from Electronic Annotation more info
kinase activity	IEA Inferred from Electronic Annotation more info
magnesium ion binding	NAS Non-traceable Author Statement more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
phosphatidylinositol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
membrane raft	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: phosphatidylinositol 4-kinase type 2-alpha

Names: phosphatidylinositol 4-kinase type 2-alpha; phosphatidylinositol 4-kinase type II-alpha; phosphatidylinositol 4-kinase type II (PI4KII)

NP_060895.1

EC 2.7.1.67

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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_018425.2 → NP_060895.1 phosphatidylinositol 4-kinase type 2-alpha

Status: PROVISIONAL

Source sequence(s)

AJ303098

Consensus CDS

CCDS7469.1

UniProtKB/Swiss-Prot

Q9BTU6

Related

ENSP00000359665, OTTHUMP00000020224, ENST00000370631, OTTHUMT00000049735

Conserved Domains (1) summary

cl00119
Location:172 – 416
Blast Score: 336

PI3Kc_like; Phosphoinositide 3-kinase (PI3K)-like family, catalytic domain; The PI3K-like catalytic domain family is part of a larger superfamily that includes the catalytic domains of other kinases such as the typical serine/threonine/tyrosine protein kinases (PKs), ...

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_000010.10 Reference GRCh37.p5 Primary Assembly

Range

99400443..99436187

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

93026125..93061814

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL355315.18	CAI15460.1
genomic	CH471066.2	EAW49906.1
		EAW49907.1
mRNA	AF070611.1	None
mRNA	AJ303098.1	CAC38065.1
mRNA	AK023236.1	None
mRNA	AK024317.1	None
mRNA	AK309343.1	None
mRNA	AL353952.1	CAB89254.1
mRNA	BC003167.1	AAH03167.1
mRNA	BT007330.1	AAP35994.1
other-genetic	DQ893537.2	ABM84463.1
other-genetic	DQ893758.2	ABM84684.1