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FLASH GENE

Symbol

PI4KA

contributors: mct/npt - updated : 23-11-2021

HGNC name	phosphatidylinositol 4-kinase, catalytic, alpha
HGNC id	8983

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NEDSPLB neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities SCZD4 schizophrenia 4 SPG84 spastic paraplegia 84
Location	22q11.21      Physical location : 21.061.980 - 21.213.070
Synonym name	phosphatidylinositol 4-kinase, catalytic, alpha polypeptide
	PtdIns-4-kinase alpha
	PI4-kinase alpha
Synonym symbol(s)	PI4K-ALPHA, PIK4CA, pi4K230, PIK4, FLJ16556
EC.number	2.7.1.67, 2.7.1.68

DNA

TYPE	functioning gene
STRUCTURE	151.12 kb     55 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	D22S400 - GGT2 - RANBP1 - HIRA - ATP6V1E1 - D22S927 - SERPIND1 ,CRKL - D22S446 - D22S530 - GNAZ - IGL@ - ADORA2A - GSTT2 - ASL ASL - D22S429 - D22S1154 - PITPNB - D22S1144

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001362862 54 - 6658 NP_001349791 - 2071 cytoplasmic membrane-bound enzyme, detected recently also in the nucleolus of several cells 2018 29386109 PI4K230 may participate in a DNase and RNase sensitive complex with a unique localization and function in the nucleolus (Kakuk 2006) for nuclear import, requires a larger sequence around it or, alternatively, the monopartite NLS variant 1 23 - 3054 isoform 1 - 854 - 2018 29386109 NM_001362863 54 - 6685 NP_001349792 - 2080 - 2018 29386109 NM_058004 55 - 6751 NP_477352 - 2102 - 2018 29386109

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas       highly   thyroid       highly Nervous brain       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an ankyrin repeat domain
	lipid kinase unique domain
	pleckstrin homology (PH) domain, presumed lipid kinase/protein kinase homology domain
	proline-rich region and SH3 domain

conjugated

LipoP

HOMOLOGY

interspecies

homolog to yeast PtdIns-4 kinase STT4

Homologene

FAMILY	PI3/PI4-kinase family
	type III PI4K subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	first step in the synthesis of phosphotidylinositol 4-J biphosphate
	does not play a significant role in the vulnerability to METH use disorder (Kanahara 2009)
	host factor essential for hepatitis C virus replication and hence is a target for drug development
	is essential for the maintenance of plasma membrane phosphatidylinositol 4,5-bisphosphate pools but only during strong stimulation of receptors coupled to phospholipase C activation
	role for PI4KA in myelin formation primarily affecting metabolism of key phospholipids and the actin cytoskeleton

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

signal transduction

mediating the action of variouss hormones

a component

INTERACTION

DNA

RNA

small molecule

protein

potential plasticity of the molecular interactions that control PI4KA localization and function

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCZD4 , SPG84 , NEDSPLB

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function is a cause of a variable phenotypical spectrum with neurological, intestinal and immunological defect

Susceptibility

to schizophrenia

Variant & Polymorphism SNP

Candidate gene	for schizophrenia in del22q11
Marker
Therapy target

ANIMAL & CELL MODELS