ROPN1L Gene
Rhophilin Associated Tail Protein 1 Like
Gene Information Card
| Symbol | ROPN1L |
|---|---|
| Full Name | Rhophilin Associated Tail Protein 1 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 5p15.2 |
| NCBI Gene ID | 83853 ncbi.nlm.nih.gov/gene/83853 |
| Ensembl ID | ENSG00000164332 |
| UniProt ID | Q96C74 |
| OMIM ID | 611756 |
| HGNC ID | 29306 |
| Aliases | ROPN1B, ROPN1L1, ROPN1-like |
Description
ROPN1L (Rhophilin Associated Tail Protein 1 Like) is a protein-coding gene located on chromosome 5p15.2. It encodes a protein involved in sperm motility and flagellar function, and has been implicated in certain cancers. The gene is part of the ROPN1 family and is expressed primarily in testis and sperm cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Sperm motility defects due to ROPN1L dysfunction | UniProt, NCBI |
| Lung cancer | Altered expression in non-small cell lung cancer | COSMIC, PubMed |
| Colorectal cancer | Mutations and expression changes observed | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 3.2 | Low |
| Prostate | 2.1 | Low |
| Lung | 1.8 | Low |
| Colon | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H1299 (lung) | 2.0 | Moderate expression |
| A549 (lung) | 1.5 | Low expression |
| HCT116 (colon) | 1.2 | Low expression |
| HEK293 (embryonic kidney) | 0.8 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional effect |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown functional effect |
| c.334_336del (p.Lys112del) | In-frame deletion | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential loss of sperm motility function
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • protein binding (GO:0005515) |
| • cilium (GO:0005929) | • sperm flagellum (GO:0036126) |
| • sperm principal piece (GO:0097228) |
Pathways
• Spermatogenesis
• Cilium assembly
Protein Summary
The ROPN1L protein is a 216-amino acid protein localized to the sperm flagellum, where it binds actin and contributes to sperm motility. It contains a ROPN1 domain and is structurally similar to ROPN1. Expression is largely testis-specific, with low levels in other tissues. The protein is implicated in male fertility and has been studied in the context of cancer due to aberrant expression in lung and colorectal tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ROPN1L Knockout HEK293 Cell Line | EDJ-KQ9907 | Human | 83853 | Details Get a Quote |
| ROPN1L Knockout A-549 Cell Line | EDJ-KQ36796 | Human | 83853 | Details Get a Quote |
| ROPN1L Knockout HeLa Cell Line | EDJ-KQ57484 | Human | 83853 | Details Get a Quote |
| ROPN1L Knockout HCT 116 Cell Line | EDJ-KQ74410 | Human | 83853 | Details Get a Quote |
