Gene
pi4kb
- ID
- ZDB-GENE-061013-96
- Name
- phosphatidylinositol 4-kinase, catalytic, beta
- Symbol
- pi4kb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable 1-phosphatidylinositol 4-kinase activity. Acts upstream of or within cilium assembly; inner ear development; and pronephros structural organization. Predicted to be located in mitochondrial outer membrane and rough endoplasmic reticulum membrane. Predicted to be active in cytoplasm and membrane. Is expressed in brain; head; otic vesicle; and sensory system. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness. Orthologous to human PI4KB (phosphatidylinositol 4-kinase beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 87 | Alliance | Deafness, autosomal dominant 87 | 620281 |
1 - 1 of 1
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018936 | Phosphatidylinositol 3/4-kinase, conserved site |
| Domain | IPR000403 | Phosphatidylinositol 3-/4-kinase, catalytic domain |
| Domain | IPR001263 | Phosphoinositide 3-kinase, accessory (PIK) domain |
| Domain | IPR049160 | PI4KB/PIK1, accessory domain |
| Family | IPR015433 | Phosphatidylinositol kinase |
1 - 5 of 7 Show all
Domain Details Per Protein
| Protein | Additional Resources | Length | Phosphatidylinositol 3-/4-kinase, catalytic domain | Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily | Phosphatidylinositol 3/4-kinase, conserved site | Phosphatidylinositol kinase | Phosphoinositide 3-kinase, accessory (PIK) domain | PI4KB/PIK1, accessory domain | Protein kinase-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1RBR8 | InterPro | 850 | |||||||
| UniProtKB:A0A8M2B4L5 | InterPro | 848 | |||||||
| UniProtKB:Q49GP3 | InterPro | 835 | |||||||
| UniProtKB:A0AB32T9K1 | InterPro | 833 |
1 - 4 of 4
- Genome Browsers
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-pi4kb | monoclonal | IgG2a | Mouse |
|
BD Biosciences
|
4 |
1 - 1 of 1
Plasmids
No data available