PBLD (Phenazine Biosynthesis-Like Domain Containing)
Gene encoding a protein with a phenazine biosynthesis-like domain, involved in cellular stress responses and potential tumor suppression.
Gene Information Card
| Symbol | PBLD |
|---|---|
| Full Name | Phenazine Biosynthesis-Like Domain Containing |
| Gene Type | protein-coding |
| Chromosomal Location | 10q21.3 |
| NCBI Gene ID | 64073 ncbi.nlm.nih.gov/gene/64073 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q9H2H9 |
| OMIM ID | 617119 |
| HGNC ID | 28811 |
| Aliases | MAK10, MGC138499, MGC138500 |
Description
PBLD (phenazine biosynthesis-like domain containing) is a protein-coding gene located on chromosome 10q21.3. The encoded protein contains a domain similar to those involved in phenazine biosynthesis in bacteria, but its precise function in humans is not fully characterized. It is implicated in cellular stress responses and may act as a tumor suppressor in certain cancers. Expression data indicate broad tissue distribution with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Potential tumor suppressor; reduced expression may promote tumorigenesis | PMID: 25636840 |
| Renal cell carcinoma | Downregulation observed; possible role in cancer progression | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 4.1 | Low |
| Brain | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line |
| HEK293 | 6.8 | Embryonic kidney cells |
| A549 | 3.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Thr116Met) | Missense | <0.01% | Unknown functional impact |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not established; no confirmed loss-of-function variants reported.
Gain of Function (GOF)
Not established; no confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not established; no evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • molecular_function (GO:0003674) | • cellular_component (GO:0005575) |
| • biological_process (GO:0008150) |
Protein Summary
The PBLD protein (UniProt Q9H2H9) contains a phenazine biosynthesis-like domain. Its exact molecular function remains unclear, but it is predicted to be involved in cellular stress responses. The protein is localized in the cytoplasm and may interact with other proteins to modulate cell growth and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PBLD Knockout HEK293 Cell Line | EDJ-KQ14692 | Human | 64081 | Details Get a Quote |
| PBLD Knockout A-549 Cell Line | EDJ-KQ44998 | Human | 64081 | Details Get a Quote |
| PBLD Knockout HCT 116 Cell Line | EDJ-KQ44999 | Human | 64081 | Details Get a Quote |
| PBLD Knockout HeLa Cell Line | EDJ-KQ45000 | Human | 64081 | Details Get a Quote |
