PLAC8L1 Gene - Placenta Specific 8 Like 1
Comprehensive genomic and functional analysis of PLAC8L1
Gene Information Card
| Symbol | PLAC8L1 |
|---|---|
| Full Name | placenta specific 8 like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 219793 ncbi.nlm.nih.gov/gene/219793 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q5JPI3 |
| OMIM ID | 614701 |
| HGNC ID | 33825 |
| Aliases | C5orf33, bA371P15.2 |
Description
PLAC8L1 (placenta specific 8 like 1) is a protein-coding gene located on chromosome 5q31.1. The encoded protein is related to PLAC8 and may be involved in cellular processes such as cell proliferation and differentiation. Its specific function remains under investigation, but it is expressed in various tissues including placenta, testis, and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Placenta | 8.2 | Medium |
| Brain | 5.1 | Low |
| Lung | 3.0 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| K562 | 4.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • cellular_component (GO:0005575) | • molecular_function (GO:0003674) |
| • biological_process (GO:0008150) |
Protein Summary
The PLAC8L1 protein (UniProt Q5JPI3) is a 152-amino acid protein with a predicted molecular weight of 17.5 kDa. It contains a PLAC8 domain and is localized to the cytoplasm and nucleus. Its exact molecular function is not fully characterized, but it may play a role in cell growth and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLAC8L1 Knockout HEK293 Cell Line | EDJ-KQ11536 | Human | 153770 | Details Get a Quote |
| PLAC8L1 Knockout HCT 116 Cell Line | EDJ-KQ39857 | Human | 153770 | Details Get a Quote |
| PLAC8L1 Knockout HeLa Cell Line | EDJ-KQ58731 | Human | 153770 | Details Get a Quote |
| PLAC8L1 Knockout A-549 Cell Line | EDJ-KQ67215 | Human | 153770 | Details Get a Quote |
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