• Gene id: 5298

Gene Summary

• Gene Symbol: PI4KB   Gene   UCSC   Ensembl
• Aliases: NPIK, PI4K-BETA, PI4K92, PI4KBETA, PI4KIII, PI4KIIIBETA, PIK4CB
• Gene name: phosphatidylinositol 4-kinase beta
• Alternate names: phosphatidylinositol 4-kinase beta, PtdIns 4-kinase beta, phosphatidylinositol 4-kinase, catalytic, beta, phosphatidylinositol 4-kinase, wortmannin-sensitive, type III phosphatidylinositol 4-kinase beta,
• Gene location: 1q21.3 (151327714: 151291796)     Exons: 15     NC_000001.11
• OMIM: 606204

Protein Summary

• Protein general information: Q9UBF8  
  • Name: Phosphatidylinositol 4 kinase beta (PI4K beta) (PI4Kbeta) (PtdIns 4 kinase beta) (EC 2.7.1.67) (NPIK) (PI4K92) (PI4KIII)
  • Length: 816  
  • Mass: 91379
  • Tissue specificity: Widely expressed with highest levels in heart, skeletal muscle, pancreas, testis and ovary. Weakly expressed in liver. {ECO
• Sequence:

  MGDTVVEPAPLKPTSEPTSGPPGNNGGSLLSVITEGVGELSVIDPEVAQKACQEVLEKVKLLHGGVAVSSRGTPL
  ELVNGDGVDSEIRCLDDPPAQIREEEDEMGAAVASGTAKGARRRRQNNSAKQSWLLRLFESKLFDISMAISYLYN
  SKEPGVQAYIGNRLFCFRNEDVDFYLPQLLNMYIHMDEDVGDAIKPYIVHRCRQSINFSLQCALLLGAYSSDMHI
  STQRHSRGTKLRKLILSDELKPAHRKRELPSLSPAPDTGLSPSKRTHQRSKSDATASISLSSNLKRTASNPKVEN
  EDEELSSSTESIDNSFSSPVRLAPEREFIKSLMAIGKRLATLPTKEQKTQRLISELSLLNHKLPARVWLPTAGFD
  HHVVRVPHTQAVVLNSKDKAPYLIYVEVLECENFDTTSVPARIPENRIRSTRSVENLPECGITHEQRAGSFSTVP
  NYDNDDEAWSVDDIGELQVELPEVHTNSCDNISQFSVDSITSQESKEPVFIAAGDIRRRLSEQLAHTPTAFKRDP
  EDPSAVALKEPWQEKVRRIREGSPYGHLPNWRLLSVIVKCGDDLRQELLAFQVLKQLQSIWEQERVPLWIKPYKI
  LVISADSGMIEPVVNAVSIHQVKKQSQLSLLDYFLQEHGSYTTEAFLSAQRNFVQSCAGYCLVCYLLQVKDRHNG
  NILLDAEGHIIHIDFGFILSSSPRNLGFETSAFKLTTEFVDVMGGLDGDMFNYYKMLMLQGLIAARKHMDKVVQI
  VEIMQQGSQLPCFHGSSTIRNLKERFHMSMTEEQLQLLVEQMVDGSMRSITTKLYDGFQYLTNGIM

• Structural information:
  • Protein Domains: (29..24-)
    (/note="PIK-helical)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00878-)
    (558..76-)
    (/note="PI3K/PI4K-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00269,-ECO:0000305")
  • Interpro: IPR011009  IPR000403  IPR036940  IPR018936  IPR001263   IPR015433  
  • Prosite: PS00915 PS00916 PS50290 PS51545
  • PDB: 2N73 4D0L 4D0M 4WAE 4WAG 5C46 5C4G 5EUQ 5FBL 5FBQ 5FBR 5FBV 5FBW 5LX2 5NAS 6GL3
  • PDBsum: 2N73 4D0L 4D0M 4WAE 4WAG 5C46 5C4G 5EUQ 5FBL 5FBQ 5FBR 5FBV 5FBW 5LX2 5NAS 6GL3
  • DIP: 42267
  • STRING: ENSP00000357869
• Other Databases: GeneCards:  PI4KB  Malacards:  PI4KB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004430	1-phosphatidylinositol 4-kinase activity	IBA	molecular function
GO:0005737	cytoplasm	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:0052742	phosphatidylinositol kinase activity	IBA	molecular function
GO:0000139	Golgi membrane	IDA	cellular component
GO:0071889	14-3-3 protein binding	IDA	molecular function
GO:0004430	1-phosphatidylinositol 4-kinase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0004430	1-phosphatidylinositol 4-kinase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0005768	endosome	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0004430	1-phosphatidylinositol 4-kinase activity	IEA	molecular function
GO:0004430	1-phosphatidylinositol 4-kinase activity	TAS	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	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:0005794	Golgi apparatus	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0030867	rough endoplasmic reticulum membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray