ROPN1B: Rhophilin Associated Tail Protein 1B
A gene encoding a sperm-specific protein involved in flagellar function and male fertility.
Gene Information Card
| Symbol | ROPN1B |
|---|---|
| Full Name | Rhophilin Associated Tail Protein 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.1 |
| NCBI Gene ID | 152015 ncbi.nlm.nih.gov/gene/152015 |
| Ensembl ID | ENSG00000163823 |
| UniProt ID | Q9BZX4 |
| OMIM ID | 611755 |
| HGNC ID | 30035 |
| Aliases | ROPN1, ROPN1L, ROPN1B, ROPN1-like |
Description
ROPN1B (Rhophilin Associated Tail Protein 1B) is a protein-coding gene located on chromosome 3q21.1. It encodes a sperm-specific protein that localizes to the flagellum and is essential for sperm motility and male fertility. The protein interacts with rhophilin and other flagellar components, playing a role in the structural integrity and signaling of the sperm tail.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (sperm motility defects) | Loss of ROPN1B disrupts flagellar structure and function, impairing sperm motility. | OMIM 611755; mouse knockout models show infertility. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | High | High |
| Fallopian tube | Low | Low |
| Prostate | Low | Low |
| Other tissues | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | High | Sperm-specific expression |
| Testicular cell lines (e.g., NT2) | Moderate | Limited data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon, likely loss of function |
| c.100C>T (p.Arg34*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • cilium (GO:0005929) | • sperm flagellum (GO:0036126) |
| • protein binding (GO:0005515) | • spermatid development (GO:0007286) |
| • flagellated sperm motility (GO:0030317) |
Pathways
• Sperm motility and flagellar assembly (Reactome: R-HSA-5617472)
Protein Summary
ROPN1B is a 21.5 kDa protein (196 amino acids) localized to the sperm flagellum. It contains a rhophilin-binding domain and is involved in the assembly and function of the sperm tail. The protein is highly conserved in mammals and is essential for normal sperm motility and male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ROPN1B Knockout HEK293 Cell Line | EDJ-KQ11366 | Human | 152015 | Details Get a Quote |
| ROPN1B Knockout HeLa Cell Line | EDJ-KQ58699 | Human | 152015 | Details Get a Quote |
| ROPN1B Knockout A-549 Cell Line | EDJ-KQ67183 | Human | 152015 | Details Get a Quote |
| ROPN1B Knockout HCT 116 Cell Line | EDJ-KQ75586 | Human | 152015 | Details Get a Quote |
