BPHL (Biphenyl Hydrolase Like)
Gene encoding a serine hydrolase involved in xenobiotic metabolism and potential cancer biomarker
Gene Information Card
| Symbol | BPHL |
|---|---|
| Full Name | Biphenyl Hydrolase Like |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 670 ncbi.nlm.nih.gov/gene/670 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q86WA6 |
| OMIM ID | 611476 |
| HGNC ID | 1092 |
| Aliases | BPHL1, VACV-IF2L, MCNA, BPHL2 |
Description
BPHL (biphenyl hydrolase like) encodes a serine hydrolase that catalyzes the hydrolysis of biphenyl esters and related xenobiotic compounds. The enzyme is involved in detoxification and metabolism of foreign substances, and its expression is altered in certain cancers, suggesting a potential role as a biomarker.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered BPHL expression may influence xenobiotic metabolism and drug sensitivity | Expression data from COSMIC and literature |
| Colorectal cancer | Downregulation of BPHL observed in tumor tissues compared to normal | Expression data from COSMIC and literature |
| Lung cancer | BPHL expression changes reported in non-small cell lung cancer | Expression data from COSMIC and literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Colon | 4.2 | Low |
| Breast | 2.8 | Low |
| Lung | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| MCF7 | 4.1 | Breast cancer cell line |
| A549 | 3.8 | Lung cancer cell line |
| HT-29 | 5.0 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | p.Met1Val; potential loss of start codon |
| c.100C>T | missense | 0.02% | p.Arg34Trp; rare variant |
| c.200G>A | missense | 0.005% | p.Gly67Glu; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Missense mutations affecting catalytic serine or substrate binding may reduce hydrolase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity | • serine-type hydrolase activity |
| • xenobiotic metabolic process | • cellular response to xenobiotic stimulus |
Pathways
• Xenobiotic metabolism
• Drug metabolism - cytochrome P450 (indirect)
Protein Summary
BPHL encodes a 299-amino acid serine hydrolase (UniProt Q86WA6) that localizes to the cytoplasm and endoplasmic reticulum. The enzyme hydrolyzes biphenyl esters and other xenobiotics, contributing to detoxification. Structural studies indicate a typical alpha/beta hydrolase fold with a catalytic triad (Ser, His, Asp).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPHL Knockout HEK293 Cell Line | EDJ-KQ4144 | Human | 670 | Details Get a Quote |
| BPHL Knockout A-549 Cell Line | EDJ-KQ26575 | Human | 670 | Details Get a Quote |
| BPHL Knockout HCT 116 Cell Line | EDJ-KQ26576 | Human | 670 | Details Get a Quote |
| BPHL Knockout HeLa Cell Line | EDJ-KQ26577 | Human | 670 | Details Get a Quote |
