• Gene id: 5297

Gene Summary

• Gene Symbol: PI4KA   Gene   UCSC   Ensembl
• Aliases: PI4K-ALPHA, PIK4CA, PMGYCHA, pi4K230
• Gene name: phosphatidylinositol 4-kinase alpha
• Alternate names: phosphatidylinositol 4-kinase alpha, 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, a,
• Gene location: 22q11.21 (20858811: 20707690)     Exons: 59     NC_000022.11
• Gene summary(Entrez): 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 molecu
• OMIM: 601054

Protein Summary

• Protein general information: P42356  
  • Name: Phosphatidylinositol 4 kinase alpha (PI4 kinase alpha) (PI4K alpha) (PtdIns 4 kinase alpha) (EC 2.7.1.67)
  • Length: 2102  
  • Mass: 236830
  • Tissue specificity: Expressed ubiquitously. Highest levels in placenta and brain. Little or no expression in lung, liver, pancreas, testis or leukocytes. {ECO
• Sequence:

  MAAAPARGGGGGGGGGGGCSGSGSSASRGFYFNTVLSLARSLAVQRPASLEKVQKLLCMCPVDFHGIFQLDERRR
  DAVIALGIFLIESDLQHKDCVVPYLLRLLKGLPKVYWVEESTARKGRGALPVAESFSFCLVTLLSDVAYRDPSLR
  DEILEVLLQVLHVLLGMCQALEIQDKEYLCKYAIPCLIGISRAFGRYSNMEESLLSKLFPKIPPHSLRVLEELEG
  VRRRSFNDFRSILPSNLLTVCQEGTLKRKTSSVSSISQVSPERGMPPPSSPGGSAFHYFEASCLPDGTALEPEYY
  FSTISSSFSVSPLFNGVTYKEFNIPLEMLRELLNLVKKIVEEAVLKSLDAIVASVMEANPSADLYYTSFSDPLYL
  TMFKMLRDTLYYMKDLPTSFVKEIHDFVLEQFNTSQGELQKILHDADRIHNELSPLKLRCQANAACVDLMVWAVK
  DEQGAENLCIKLSEKLQSKTSSKVIIAHLPLLICCLQGLGRLCERFPVVVHSVTPSLRDFLVIPSPVLVKLYKYH
  SQYHTVAGNDIKISVTNEHSESTLNVMSGKKSQPSMYEQLRDIAIDNICRCLKAGLTVDPVIVEAFLASLSNRLY
  ISQESDKDAHLIPDHTIRALGHIAVALRDTPKVMEPILQILQQKFCQPPSPLDVLIIDQLGCLVITGNQYIYQEV
  WNLFQQISVKASSVVYSATKDYKDHGYRHCSLAVINALANIAANIQDEHLVDELLMNLLELFVQLGLEGKRASER
  ASEKGPALKASSSAGNLGVLIPVIAVLTRRLPPIKEAKPRLQKLFRDFWLYSVLMGFAVEGSGLWPEEWYEGVCE
  IATKSPLLTFPSKEPLRSVLQYNSAMKNDTVTPAELSELRSTIINLLDPPPEVSALINKLDFAMSTYLLSVYRLE
  YMRVLRSTDPDRFQVMFCYFEDKAIQKDKSGMMQCVIAVADKVFDAFLNMMADKAKTKENEEELERHAQFLLVNF
  NHIHKRIRRVADKYLSGLVDKFPHLLWSGTVLKTMLDILQTLSLSLSADIHKDQPYYDIPDAPYRITVPDTYEAR
  ESIVKDFAARCGMILQEAMKWAPTVTKSHLQEYLNKHQNWVSGLSQHTGLAMATESILHFAGYNKQNTTLGATQL
  SERPACVKKDYSNFMASLNLRNRYAGEVYGMIRFSGTTGQMSDLNKMMVQDLHSALDRSHPQHYTQAMFKLTAML
  ISSKDCDPQLLHHLCWGPLRMFNEHGMETALACWEWLLAGKDGVEVPFMREMAGAWHMTVEQKFGLFSAEIKEAD
  PLAASEASQPKPCPPEVTPHYIWIDFLVQRFEIAKYCSSDQVEIFSSLLQRSMSLNIGGAKGSMNRHVAAIGPRF
  KLLTLGLSLLHADVVPNATIRNVLREKIYSTAFDYFSCPPKFPTQGEKRLREDISIMIKFWTAMFSDKKYLTASQ
  LVPPDNQDTRSNLDITVGSRQQATQGWINTYPLSSGMSTISKKSGMSKKTNRGSQLHKYYMKRRTLLLSLLATEI
  ERLITWYNPLSAPELELDQAGENSVANWRSKYISLSEKQWKDNVNLAWSISPYLAVQLPARFKNTEAIGNEVTRL
  VRLDPGAVSDVPEAIKFLVTWHTIDADAPELSHVLCWAPTDPPTGLSYFSSMYPPHPLTAQYGVKVLRSFPPDAI
  LFYIPQIVQALRYDKMGYVREYILWAASKSQLLAHQFIWNMKTNIYLDEEGHQKDPDIGDLLDQLVEEITGSLSG
  PAKDFYQREFDFFNKITNVSAIIKPYPKGDERKKACLSALSEVKVQPGCYLPSNPEAIVLDIDYKSGTPMQSAAK
  APYLAKFKVKRCGVSELEKEGLRCRSDSEDECSTQEADGQKISWQAAIFKVGDDCRQDMLALQIIDLFKNIFQLV
  GLDLFVFPYRVVATAPGCGVIECIPDCTSRDQLGRQTDFGMYDYFTRQYGDESTLAFQQARYNFIRSMAAYSLLL
  FLLQIKDRHNGNIMLDKKGHIIHIDFGFMFESSPGGNLGWEPDIKLTDEMVMIMGGKMEATPFKWFMEMCVRGYL
  AVRPYMDAVVSLVTLMLDTGLPCFRGQTIKLLKHRFSPNMTEREAANFIMKVIQSCFLSNRSRTYDMIQYYQNDI
  PY

• Structural information:
  • Protein Domains: (1530..171-)
    (/note="PIK-helical)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00878-)
    (1846..207-)
    (/note="PI3K/PI4K-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00269"-)
  • Interpro: IPR016024  IPR011009  IPR000403  IPR036940  IPR018936   IPR001263  IPR042236  IPR015433  
  • Prosite: PS00915 PS00916 PS50290 PS51545
  • PDB: 6BQ1
  • PDBsum: 6BQ1
  • STRING: ENSP00000255882
• Other Databases: GeneCards:  PI4KA  Malacards:  PI4KA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044803	multi-organism membrane organization	IMP	biological process
GO:0019034	viral replication complex	IMP	cellular component
GO:0046786	viral replication complex formation and maintenance	IMP	biological process
GO:0039694	viral RNA genome replication	IMP	biological process
GO:0052742	phosphatidylinositol kinase activity	IBA	molecular function
GO:0004430	1-phosphatidylinositol 4-kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0046854	phosphatidylinositol phosphorylation	IBA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0030660	Golgi-associated vesicle membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004430	1-phosphatidylinositol 4-kinase activity	ISS	molecular function
GO:0046854	phosphatidylinositol phosphorylation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0004430	1-phosphatidylinositol 4-kinase activity	IEA	molecular function
GO:0016301	kinase activity	IDA	molecular function
GO:0016310	phosphorylation	IDA	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Polymicrogyria	KEGG:H00271
Polymicrogyria	KEGG:H00271
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq