PI4KA phosphatidylinositol 4-kinase alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: PI4KAprovided by HGNC
Official Full Name: phosphatidylinositol 4-kinase alphaprovided by HGNC
Primary source: HGNC:HGNC:8983
See related: Ensembl:ENSG00000241973 MIM:600286; AllianceGenome:HGNC:8983
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SPG84; GIDID2; PIK4CA; PMGYCHA; pi4K230; PI4K-ALPHA
Summary: This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]
Expression: Ubiquitous expression in brain (RPKM 52.3), testis (RPKM 23.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 57

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (20707691..20858811, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (21116400..21267532, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (21061979..21213099, complement)

Chromosome 22 - NC_000022.11 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural basis for the conserved roles of PI4KA and its regulatory partners and their misregulation in disease.
Title: Structural basis for the conserved roles of PI4KA and its regulatory partners and their misregulation in disease.
Adaptor proteins mediate CXCR4 and PI4KA crosstalk in prostate cancer cells and the significance of PI4KA in bone tumor growth.
Title: Adaptor proteins mediate CXCR4 and PI4KA crosstalk in prostate cancer cells and the significance of PI4KA in bone tumor growth.
CircPI4KA Overexpression Enhances Carcinogenesis and Glycolysis Metabolism in Papillary Thyroid Carcinoma by Causing the miR-1287-5p-Mediated NRP2 Expression Elevation.
Title: CircPI4KA Overexpression Enhances Carcinogenesis and Glycolysis Metabolism in Papillary Thyroid Carcinoma by Causing the miR-1287-5p-Mediated NRP2 Expression Elevation.
Actin dynamics regulation by TTC7A/PI4KIIIalpha limits DNA damage and cell death under confinement.
Title: Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.
PI4KA and PIKfyve: Essential phosphoinositide signaling enzymes involved in myriad human diseases.
Title: PI4KA and PIKfyve: Essential phosphoinositide signaling enzymes involved in myriad human diseases.
A synonymous mutation in <i>PI4KA</i> impacts the transcription and translation process of gene expression.
Title: A synonymous mutation in PI4KA impacts the transcription and translation process of gene expression.
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Title: Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Title: Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Oncogenic KRAS is dependent upon an EFR3A-PI4KA signaling axis for potent tumorigenic activity.
Title: Oncogenic KRAS is dependent upon an EFR3A-PI4KA signaling axis for potent tumorigenic activity.
we provide evidence linking PI4KAP2, previously considered a pseudogene, to human myeloid and erythroid leukemia.
Title: A Forward Genetic Screen Targeting the Endothelium Reveals a Regulatory Role for the Lipid Kinase Pi4ka in Myelo- and Erythropoiesis.

Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Gastrointestinal defects and immunodeficiency syndrome 2 MedGen: C5676901 OMIM: 619708 GeneReviews: PI4KA-Related Disorder	Compare labs
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MedGen: C4225295 OMIM: 616531 GeneReviews: PI4KA-Related Disorder	Compare labs
Spastic paraplegia 84, autosomal recessive MedGen: C5562025 OMIM: 619621 GeneReviews: PI4KA-Related Disorder	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D22S1026 (e-PCR)
- UniSTS:59669

D22S311 (e-PCR)
- UniSTS:49717

STS-M12849 (e-PCR)
- UniSTS:9301

SHGC-57873 (e-PCR)
- UniSTS:50537

D22S1125 (e-PCR)
- UniSTS:30062

RH78571 (e-PCR)
- UniSTS:47731

RH27825 (e-PCR)
- UniSTS:90510

D22S1540 (e-PCR)
- UniSTS:22953

SHGC-82177 (e-PCR)
- UniSTS:103084

RH27899 (e-PCR)
- UniSTS:89775

WI-7024 (e-PCR)
- UniSTS:32751

Gene Ontology Provided by GOA

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	ISS Inferred from Sequence or Structural Similarity more info
enables 1-phosphatidylinositol 4-kinase activity	TAS Traceable Author Statement more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables cadherin binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in modulation by host of viral process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol biosynthetic process	TAS Traceable Author Statement more info
involved_in phosphatidylinositol phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol phosphate biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylinositol-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in reorganization of cellular membranes to establish viral sites of replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi-associated vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phosphatidylinositol 4-kinase alpha

Names: PI4-kinase alpha; phosphatidylinositol 4-kinase 230; phosphatidylinositol 4-kinase III alpha; phosphatidylinositol 4-kinase IIII+/-; phosphatidylinositol 4-kinase, catalytic, alpha; phosphatidylinositol 4-kinase, type III, alpha; ptdIns-4-kinase alpha; testicular secretory protein Li 35

NP_001349791.1

EC 2.7.1.67

NP_001349792.1

EC 2.7.1.67

NP_477352.3

EC 2.7.1.67

XP_005261692.1

EC 2.7.1.67

XP_011528528.1

EC 2.7.1.67

XP_011528530.1

EC 2.7.1.67

XP_047297364.1

EC 2.7.1.67

XP_047297365.1

EC 2.7.1.67

XP_047297366.1

EC 2.7.1.67

XP_054181670.1

EC 2.7.1.67

XP_054181671.1

EC 2.7.1.67

XP_054181672.1

EC 2.7.1.67

XP_054181673.1

EC 2.7.1.67

XP_054181674.1

EC 2.7.1.67

XP_054181675.1

EC 2.7.1.67

XP_054181676.1

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.

Genomic

NG_033052.2 RefSeqGene

Range

5002..156122

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001362862.2 → NP_001349791.1 phosphatidylinositol 4-kinase alpha isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon, compared to variant 1, and encodes a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC007050, AC007308, BU685224

UniProtKB/TrEMBL

B4DYG5

Conserved Domains (2) summary

cd00871
Location:1516 → 1691

PI4Ka; Phosphoinositide 4-kinase(PI4K), accessory domain (PIK domain); PIK domain is conserved in PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. PI4K phosphorylates hydroxylgroup at position 4 on the ...

cd05167
Location:1752 → 2070

PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha
NM_001362863.2 → NP_001349792.1 phosphatidylinositol 4-kinase alpha isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame exon, compared to variant 1, and encodes a shorter protein (isoform 3), compared to isoform 1.

Source sequence(s)

AC007050, AC007308, BU685224

UniProtKB/TrEMBL

B4DYG5

Conserved Domains (2) summary

cd00871
Location:1525 → 1700

PI4Ka; Phosphoinositide 4-kinase(PI4K), accessory domain (PIK domain); PIK domain is conserved in PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. PI4K phosphorylates hydroxylgroup at position 4 on the ...

cd05167
Location:1761 → 2079

PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha
NM_058004.4 → NP_477352.3 phosphatidylinositol 4-kinase alpha isoform 1

See identical proteins and their annotated locations for NP_477352.3

Status: REVIEWED

Source sequence(s)

AB210002, AK302424, AL048955, BU685224, DA959365

Consensus CDS

CCDS33603.2

UniProtKB/Swiss-Prot

P42356, Q7Z625, Q9UPG2

UniProtKB/TrEMBL

B4DYG5

Related

ENSP00000255882.6, ENST00000255882.11

Conserved Domains (3) summary

cd00871
Location:1547 → 1722

PI4Ka; Phosphoinositide 4-kinase(PI4K), accessory domain (PIK domain); PIK domain is conserved in PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. PI4K phosphorylates hydroxylgroup at position 4 on the ...

cd05167
Location:1783 → 2101

PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha

pfam19274
Location:378 → 1514

PI4K_N; PI4-kinase N-terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

20707691..20858811 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005261635.2 → XP_005261692.1 phosphatidylinositol 4-kinase alpha isoform X2

UniProtKB/TrEMBL

Q4LE69

Conserved Domains (1) summary

cd05167
Location:1535 → 1853

PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha
XM_047441410.1 → XP_047297366.1 phosphatidylinositol 4-kinase alpha isoform X6
XM_047441408.1 → XP_047297364.1 phosphatidylinositol 4-kinase alpha isoform X1
XM_011530226.2 → XP_011528528.1 phosphatidylinositol 4-kinase alpha isoform X3
XM_011530228.3 → XP_011528530.1 phosphatidylinositol 4-kinase alpha isoform X5
XM_047441409.1 → XP_047297365.1 phosphatidylinositol 4-kinase alpha isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

21116400..21267532 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325696.1 → XP_054181671.1 phosphatidylinositol 4-kinase alpha isoform X2
XM_054325700.1 → XP_054181675.1 phosphatidylinositol 4-kinase alpha isoform X6
XM_054325701.1 → XP_054181676.1 phosphatidylinositol 4-kinase alpha isoform X7

UniProtKB/TrEMBL

A0A140VK35
XM_054325695.1 → XP_054181670.1 phosphatidylinositol 4-kinase alpha isoform X1
XM_054325697.1 → XP_054181672.1 phosphatidylinositol 4-kinase alpha isoform X3
XM_054325699.1 → XP_054181674.1 phosphatidylinositol 4-kinase alpha isoform X5
XM_054325698.1 → XP_054181673.1 phosphatidylinositol 4-kinase alpha isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_002650.2: Suppressed sequence

Description

NM_002650.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and the transcript appears to be incomplete at the 5' end.