PI4KB

Developmental stage

Expressed in 11-week old fetal inner ear.

Function

Phosphorylates phosphatidylinositol (PI) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate (PIP). May regulate Golgi disintegration/reorganization during mitosis, possibly via its phosphorylation. Involved in Golgi-to-plasma membrane trafficking (By similarity) (PubMed:10559940, PubMed:11277933, PubMed:12749687, PubMed:9405935). May play an important role in the inner ear development.

(Microbial infection) Plays an essential role in Aichi virus RNA replication (PubMed:22124328, PubMed:22258260, PubMed:27989622). Recruited by ACBD3 at the viral replication sites (PubMed:22124328, PubMed:27989622).

(Microbial infection) Required for cellular spike-mediated entry of human coronavirus SARS-CoV.

Involvement in disease

Deafness, autosomal dominant, 87

DFNA87

A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA87 is characterized by prelingual, profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct.

None

The disease may be caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily.

Tissue Specificity

Widely expressed with highest levels in heart, skeletal muscle, pancreas, testis and ovary. Weakly expressed in liver (PubMed:9020160, PubMed:9405935, PubMed:9405938). Expressed in the innear ear in the epithelium of the spinal organ of corti.

Cellular localization

• Endomembrane system
• Mitochondrion outer membrane
• Peripheral membrane protein
• Rough endoplasmic reticulum membrane
• Peripheral membrane protein
• Golgi apparatus
• Golgi apparatus membrane
• Cytoplasm
• Perinuclear region
• Found in the outer membrane of mitochondria and membranes of the rough endoplasmic reticulum. Recruited to the Golgi complex by the small GTPase ARF to stimulate the synthesis of phosphatidylinositol 4,5-bisphosphate (PIP2) on the Golgi complex. Recruited to the Golgi apparatus membrane by ACBD3 (PubMed:24672044, PubMed:27009356, PubMed:28289207). GGA2 is also involved in the recruitment (PubMed:28289207).

Alternative names

PIK4CB, PI4KB, Phosphatidylinositol 4-kinase beta, PI4K-beta, PI4Kbeta, PtdIns 4-kinase beta, NPIK, PI4K92, PI4KIII

Database links

swissprot:Q9UBF8 omim:602758 swissprot:Q5VWB9 swissprot:Q5VWC0 swissprot:Q5VWC1 entrezGene:5298