CYP3A7-CYP3A51P Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the CYP3A7-CYP3A51P readthrough transcript, its genomic context, expression patterns, and implications in drug metabolism and disease.
Gene Information Card
| Symbol | CYP3A7-CYP3A51P |
|---|---|
| Full Name | CYP3A7-CYP3A51P readthrough |
| Gene Type | Readthrough transcript (protein coding) |
| Chromosomal Location | 7q22.1 (GRCh38) |
| NCBI Gene ID | 100861540 ncbi.nlm.nih.gov/gene/100861540 |
| Ensembl ID | ENSG00000275216 |
| UniProt ID | P0DML3 (putative) |
| OMIM ID | Not assigned (CYP3A7: 605409; CYP3A51P: not assigned) |
| HGNC ID | HGNC:40062 (CYP3A7-CYP3A51P) |
| Aliases | CYP3A7-3A51P, CYP3A7/CYP3A51P readthrough |
Description
CYP3A7-CYP3A51P is a readthrough transcript that results from the natural fusion of the CYP3A7 and CYP3A51P genes located on chromosome 7q22.1. This readthrough produces a chimeric mRNA that may encode a protein with altered function compared to the individual CYP3A7 and CYP3A51P products. CYP3A7 is a cytochrome P450 enzyme primarily expressed in fetal liver, while CYP3A51P is a pseudogene. The readthrough transcript is annotated in Ensembl and NCBI, but its functional significance in human biology remains under investigation. It may play a role in drug metabolism and developmental processes, but further studies are needed to clarify its clinical relevance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not directly associated with specific diseases | The readthrough transcript may alter CYP3A7 expression or function, potentially affecting drug metabolism and susceptibility to adverse drug reactions. However, no direct disease association has been established. | No direct evidence from ClinVar or OMIM; inferred from CYP3A7 involvement in drug metabolism. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver (fetal) | Not available (nTPM not specified) | High expression of CYP3A7 in fetal liver; readthrough may be co-expressed. |
| Liver (adult) | Not available | Low expression in adult liver; readthrough may be present at low levels. |
| Other tissues | Not available | Expression data not available for the readthrough specifically. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver carcinoma) | Not available | CYP3A7 is expressed in HepG2; readthrough may be present. |
| Primary hepatocytes | Not available | Fetal hepatocytes show high CYP3A7; readthrough may be detected. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific variants curated for CYP3A7-CYP3A51P | Not applicable | Not available | No functional data; variants in CYP3A7 (e.g., CYP3A7*1C) affect expression but not the readthrough specifically. |
Mutation functional classification
Loss of Function (LOF)
Not applicable; no functional variants identified for the readthrough.
Gain of Function (GOF)
Not applicable; no functional variants identified.
Dominant Negative (DN)
Not applicable; no evidence.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: monooxygenase activity (inferred from CYP3A7) | • Biological process: xenobiotic metabolic process (inferred from CYP3A7) |
| • Cellular component: endoplasmic reticulum membrane (inferred from CYP3A7) |
Pathways
• Drug metabolism - cytochrome P450 (KEGG: hsa00982)
• Chemical carcinogenesis (KEGG: hsa05204)
Protein Summary
The CYP3A7-CYP3A51P readthrough transcript is predicted to produce a chimeric protein that includes the N-terminal portion of CYP3A7 and the C-terminal portion of CYP3A51P (a pseudogene). The functional impact is unknown; it may retain some monooxygenase activity or act as a dominant-negative regulator. The protein is likely localized to the endoplasmic reticulum membrane, similar to other CYP3A enzymes. However, no experimental evidence confirms its existence as a functional protein.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP3A7-CYP3A51P Knockout HEK293 Cell Line | EDJ-KQ52516 | Human | 100861540 | Details Get a Quote |
| CYP3A7-CYP3A51P Knockout HeLa Cell Line | EDJ-KQ60983 | Human | 100861540 | Details Get a Quote |
| CYP3A7-CYP3A51P Knockout A-549 Cell Line | EDJ-KQ69458 | Human | 100861540 | Details Get a Quote |
| CYP3A7-CYP3A51P Knockout HCT 116 Cell Line | EDJ-KQ77809 | Human | 100861540 | Details Get a Quote |
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