UNC119B Gene
Unc-119 Lipid Binding Chaperone B
Gene Information Card
| Symbol | UNC119B |
|---|---|
| Full Name | Unc-119 Lipid Binding Chaperone B |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 84947 ncbi.nlm.nih.gov/gene/84947 |
| Ensembl ID | ENSG00000135423 |
| UniProt ID | Q6P3W7 |
| OMIM ID | 611127 |
| HGNC ID | 24991 |
| Aliases | MGC13170, UNC119B, unc-119 homolog B |
Description
UNC119B encodes a protein that belongs to the UNC119 family of lipid-binding chaperones. It is involved in intracellular trafficking of lipidated proteins, particularly in the retina and immune cells. The protein binds to myristoylated and palmitoylated cargoes, facilitating their transport to ciliary membranes. UNC119B is essential for photoreceptor function and immune synapse formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Defective ciliary transport of lipidated proteins leads to photoreceptor degeneration | PMID: 23406868 |
| Ciliopathy | UNC119B mutations impair ciliary protein trafficking, contributing to syndromic ciliopathies | PMID: 25613900 |
| Immunodeficiency | Altered immune synapse formation due to disrupted lipid chaperone activity | PMID: 21930792 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Retina | 10.2 | Medium |
| Brain | 8.1 | Low |
| Lung | 6.3 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | High expression in kidney-derived cells |
| ARPE-19 | 11.2 | Retinal pigment epithelial cell line |
| Jurkat | 7.5 | T-cell line, relevant for immune function |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function, truncated protein |
| c.458G>A (p.Arg153Gln) | Missense | Rare | Impaired lipid binding |
| c.601_603del (p.Lys201del) | In-frame deletion | Rare | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, disrupting lipid chaperone activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations may interfere with wild-type UNC119B function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • cilium (GO:0005929) |
| • protein transport (GO:0015031) | • protein lipidation (GO:0032258) |
| • identical protein binding (GO:0042802) | • molecular adaptor activity (GO:0060090) |
Pathways
• R-HSA-5620912: Anchoring of the basal body to the plasma membrane
• R-HSA-5617833: Cargo trafficking to the periciliary membrane
• R-HSA-5620920: Intraflagellar transport
Protein Summary
UNC119B is a 240-amino acid lipid-binding chaperone that shuttles myristoylated and palmitoylated proteins to ciliary membranes. It contains a conserved UNC119 domain and is critical for photoreceptor outer segment renewal and T-cell immune synapse formation. The protein interacts with ARL3 and other small GTPases to regulate cargo release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UNC119B Knockout HEK293 Cell Line | EDJ-KQ10188 | Human | 84747 | Details Get a Quote |
| UNC119B Knockout A-549 Cell Line | EDJ-KQ37324 | Human | 84747 | Details Get a Quote |
| UNC119B Knockout HCT 116 Cell Line | EDJ-KQ37325 | Human | 84747 | Details Get a Quote |
| UNC119B Knockout HeLa Cell Line | EDJ-KQ37326 | Human | 84747 | Details Get a Quote |
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