PI4KA (phosphatidylinositol 4-kinase alpha)

Gene

• Entrez ID: 5297
• Gene name: Phosphatidylinositol 4-kinase alpha
• Gene symbol: PI4KA
• Synonyms: GIDID2, PI4K-ALPHA, PIK4CA, PMGYCHA, SPG84, pi4K230
• Chromosome: 22
• Chromosome location: 22q11.21
• 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 molecu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs747119727	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs777006911	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555884508	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048844	hsa-miR-93-5p	CLASH	23622248
MIRT041683	hsa-miR-484	CLASH	23622248
MIRT439980	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439980	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1232804	hsa-miR-1913	CLIP-seq
MIRT1232805	hsa-miR-3189-5p	CLIP-seq
MIRT1232806	hsa-miR-3197	CLIP-seq
MIRT1232807	hsa-miR-324-3p	CLIP-seq
MIRT1232808	hsa-miR-4459	CLIP-seq
MIRT1232809	hsa-miR-4640-5p	CLIP-seq
MIRT1232810	hsa-miR-4695-5p	CLIP-seq
MIRT1232811	hsa-miR-4726-5p	CLIP-seq
MIRT1232812	hsa-miR-4758-3p	CLIP-seq
MIRT1232813	hsa-miR-604	CLIP-seq
MIRT1232814	hsa-miR-662	CLIP-seq
MIRT1232815	hsa-miR-665	CLIP-seq
MIRT1232816	hsa-miR-9	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232823	hsa-miR-455-3p	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232826	hsa-miR-639	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT2295671	hsa-miR-1228	CLIP-seq
MIRT2295672	hsa-miR-153	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232823	hsa-miR-455-3p	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232826	hsa-miR-639	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT2295671	hsa-miR-1228	CLIP-seq
MIRT2295672	hsa-miR-153	CLIP-seq
MIRT2439473	hsa-miR-1914	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT2295671	hsa-miR-1228	CLIP-seq
MIRT2295672	hsa-miR-153	CLIP-seq
MIRT1232804	hsa-miR-1913	CLIP-seq
MIRT2439473	hsa-miR-1914	CLIP-seq
MIRT2593472	hsa-miR-217	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232805	hsa-miR-3189-5p	CLIP-seq
MIRT1232806	hsa-miR-3197	CLIP-seq
MIRT1232807	hsa-miR-324-3p	CLIP-seq
MIRT2593473	hsa-miR-4279	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232808	hsa-miR-4459	CLIP-seq
MIRT2593474	hsa-miR-4467	CLIP-seq
MIRT1232823	hsa-miR-455-3p	CLIP-seq
MIRT1232809	hsa-miR-4640-5p	CLIP-seq
MIRT2593475	hsa-miR-4650-5p	CLIP-seq
MIRT2593476	hsa-miR-4691-5p	CLIP-seq
MIRT1232810	hsa-miR-4695-5p	CLIP-seq
MIRT1232811	hsa-miR-4726-5p	CLIP-seq
MIRT2593477	hsa-miR-4757-5p	CLIP-seq
MIRT1232812	hsa-miR-4758-3p	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232813	hsa-miR-604	CLIP-seq
MIRT1232826	hsa-miR-639	CLIP-seq
MIRT1232814	hsa-miR-662	CLIP-seq
MIRT1232815	hsa-miR-665	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT1232816	hsa-miR-9	CLIP-seq
MIRT2295671	hsa-miR-1228	CLIP-seq
MIRT2295672	hsa-miR-153	CLIP-seq
MIRT1232804	hsa-miR-1913	CLIP-seq
MIRT2439473	hsa-miR-1914	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232805	hsa-miR-3189-5p	CLIP-seq
MIRT1232806	hsa-miR-3197	CLIP-seq
MIRT1232807	hsa-miR-324-3p	CLIP-seq
MIRT2593473	hsa-miR-4279	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232808	hsa-miR-4459	CLIP-seq
MIRT1232823	hsa-miR-455-3p	CLIP-seq
MIRT1232809	hsa-miR-4640-5p	CLIP-seq
MIRT2593475	hsa-miR-4650-5p	CLIP-seq
MIRT2593476	hsa-miR-4691-5p	CLIP-seq
MIRT1232810	hsa-miR-4695-5p	CLIP-seq
MIRT1232811	hsa-miR-4726-5p	CLIP-seq
MIRT2593477	hsa-miR-4757-5p	CLIP-seq
MIRT1232812	hsa-miR-4758-3p	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232813	hsa-miR-604	CLIP-seq
MIRT1232826	hsa-miR-639	CLIP-seq
MIRT1232814	hsa-miR-662	CLIP-seq
MIRT1232815	hsa-miR-665	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT1232816	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004430	Function	1-phosphatidylinositol 4-kinase activity	IBA	21873635
GO:0004430	Function	1-phosphatidylinositol 4-kinase activity	ISS
GO:0005515	Function	Protein binding	IPI	14676841, 15607035, 21238945, 21297162, 23675303, 23935497, 25608530, 26571211
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	23229899
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	23229899
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0007165	Process	Signal transduction	NAS	7961848
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA	21873635
GO:0016301	Function	Kinase activity	IDA	25327288
GO:0016310	Process	Phosphorylation	IDA	25327288
GO:0019034	Component	Viral replication complex	IMP	19376974
GO:0030660	Component	Golgi-associated vesicle membrane	ISS
GO:0039694	Process	Viral RNA genome replication	IMP	19376974
GO:0044803	Process	Multi-organism membrane organization	IMP	19376974
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046786	Process	Viral replication complex formation and maintenance	IMP	19376974
GO:0046854	Process	Phosphatidylinositol phosphorylation	IBA	21873635
GO:0046854	Process	Phosphatidylinositol phosphorylation	ISS
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA	21873635
GO:0052742	Function	Phosphatidylinositol kinase activity	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	20458337

Other IDs

• MIM: 600286
• HGNC: 8983
• e!Ensembl: ENSG00000241973

Protein

• UniProt ID: P42356
• Protein name: Phosphatidylinositol 4-kinase alpha (PI4-kinase alpha) (PI4K-alpha) (PtdIns-4-kinase alpha) (EC 2.7.1.67) (Phosphatidylinositol 4-Kinase III alpha)
• Protein function: Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.
• PDB: 6BQ1, 9B9G, 9BAX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00613	PI3Ka	1562 → 1728	Phosphoinositide 3-kinase family, accessory domain (PIK domain)	Family
  PF00454	PI3_PI4_kinase	1844 → 1914	Phosphatidylinositol 3- and 4-kinase	Family
  PF00454	PI3_PI4_kinase	1907 → 2051	Phosphatidylinositol 3- and 4-kinase	Family

• Sequence:

  MAAAPARGGGGGGGGGGGCSGSGSSASRGFYFNTVLSLARSLAVQRPASLEKVQKLLCMC
  PVDFHGIFQLDERRRDAVIALGIFLIESDLQHKDCVVPYLLRLLKGLPKVYWVEESTARK
  GRGALPVAESFSFCLVTLLSDVAYRDPSLRDEILEVLLQVLHVLLGMCQALEIQDKEYLC
  KYAIPCLIGISRAFGRYSNMEESLLSKLFPKIPPHSLRVLEELEGVRRRSFNDFRSILPS
  NLLTVCQEGTLKRKTSSVSSISQVSPERGMPPPSSPGGSAFHYFEASCLPDGTALEPEYY
  FSTISSSFSVSPLFNGVTYKEFNIPLEMLRELLNLVKKIVEEAVLKSLDAIVASVMEANP
  SADLYYTSFSDPLYLTMFKMLRDTLYYMKDLPTSFVKEIHDFVLEQFNTSQGELQKILHD
  ADRIHNELSPLKLRCQANAACVDLMVWAVKDEQGAENLCIKLSEKLQSKTSSKVIIAHLP
  LLICCLQGLGRLCERFPVVVHSVTPSLRDFLVIPSPVLVKLYKYHSQYHTVAGNDIKISV
  TNEHSESTLNVMSGKKSQPSMYEQLRDIAIDNICRCLKAGLTVDPVIVEAFLASLSNRLY
  ISQESDKDAHLIPDHTIRALGHIAVALRDTPKVMEPILQILQQKFCQPPSPLDVLIIDQL
  GCLVITGNQYIYQEVWNLFQQISVKASSVVYSATKDYKDHGYRHCSLAVINALANIAANI
  QDEHLVDELLMNLLELFVQLGLEGKRASERASEKGPALKASSSAGNLGVLIPVIAVLTRR
  LPPIKEAKPRLQKLFRDFWLYSVLMGFAVEGSGLWPEEWYEGVCEIATKSPLLTFPSKEP
  LRSVLQYNSAMKNDTVTPAELSELRSTIINLLDPPPEVSALINKLDFAMSTYLLSVYRLE
  YMRVLRSTDPDRFQVMFCYFEDKAIQKDKSGMMQCVIAVADKVFDAFLNMMADKAKTKEN
  EEELERHAQFLLVNFNHIHKRIRRVADKYLSGLVDKFPHLLWSGTVLKTMLDILQTLSLS
  LSADIHKDQPYYDIPDAPYRITVPDTYEARESIVKDFAARCGMILQEAMKWAPTVTKSHL
  QEYLNKHQNWVSGLSQHTGLAMATESILHFAGYNKQNTTLGATQLSERPACVKKDYSNFM
  ASLNLRNRYAGEVYGMIRFSGTTGQMSDLNKMMVQDLHSALDRSHPQHYTQAMFKLTAML
  ISSKDCDPQLLHHLCWGPLRMFNEHGMETALACWEWLLAGKDGVEVPFMREMAGAWHMTV
  EQKFGLFSAEIKEADPLAASEASQPKPCPPEVTPHYIWIDFLVQRFEIAKYCSSDQVEIF
  SSLLQRSMSLNIGGAKGSMNRHVAAIGPRFKLLTLGLSLLHADVVPNATIRNVLREKIYS
  TAFDYFSCPPKFPTQGEKRLREDISIMIKFWTAMFSDKKYLTASQLVPPDNQDTRSNLDI
  TVGSRQQATQGWINTYPLSSGMSTISKKSGMSKKTNRGSQLHKYYMKRRTLLLSLLATEI
  ERLITWYNPLSAPELELDQAGENSVANWRSKYISLSEKQWKDNVNLAWSISPYLAVQLPA
  RFKNTEAIGNEVTRLVRLDPGAVSDVPEAIKFLVTWHTIDADAPELSHVLCWAPTDPPTG
  LSYFSSMYPPHPLTAQYGVKVLRSFPPDAILFYIPQIVQALRYDKMGYVREYILWAASKS
  QLLAHQFIWNMKTNIYLDEEGHQKDPDIGDLLDQLVEEITGSLSGPAKDFYQREFDFFNK
  ITNVSAIIKPYPKGDERKKACLSALSEVKVQPGCYLPSNPEAIVLDIDYKSGTPMQSAAK
  APYLAKFKVKRCGVSELEKEGLRCRSDSEDECSTQEADGQKISWQAAIFKVGDDCRQDML
  ALQIIDLFKNIFQLVGLDLFVFPYRVVATAPGCGVIECIPDCTSRDQLGRQTDFGMYDYF
  TRQYGDESTLAFQQARYNFIRSMAAYSLLLFLLQIKDRHNGNIMLDKKGHIIHIDFGFMF
  ESSPGGNLGWEPDIKLTDEMVMIMGGKMEATPFKWFMEMCVRGYLAVRPYMDAVVSLVTL
  MLDTGLPCFRGQTIKLLKHRFSPNMTEREAANFIMKVIQSCFLSNRSRTYDMIQYYQNDI
  PY

• Sequence length: 2102

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system

Reactome:

Synthesis of PIPs at the ER membrane
Synthesis of PIPs at the Golgi membrane

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Cednik syndrome	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	rs387907363, rs869312906, rs886041240, rs751575036, rs1064795236
Heparin cofactor ii deficiency	Heparin cofactor II deficiency (disorder)	rs587777759, rs587777760, rs121912420
Leukodystrophy	Leukodystrophy, Hypomyelinating, 2	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS	rs62508698, rs62516141, rs777006911, rs747119727, rs1932452329	25855803
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	18521859, 17893707, 25209194, 18646052

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar hypoplasia	Cerebellar Hypoplasia
Congenital clubfoot	Congenital clubfoot
Dolichocephaly	Long narrow head
Micrognathism	Micrognathism
Perisylvian polymicrogyria	Bilateral perisylvian polymicrogyria
Perisylvian syndrome	Perisylvian syndrome		25855803