RIPOR1
RHO Family Interacting Cell Polarization Regulator 1
Gene Information Card
| Symbol | RIPOR1 |
|---|---|
| Full Name | RHO family interacting cell polarization regulator 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 23167 ncbi.nlm.nih.gov/gene/23167 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | Q9H0H5 |
| OMIM ID | 617549 |
| HGNC ID | 29323 |
| Aliases | C16orf58, FAM65A, FLJ10324, MGC138499 |
Description
RIPOR1 (RHO family interacting cell polarization regulator 1) is a protein-coding gene located on chromosome 16q24.3. It encodes a protein involved in cell polarity, cytoskeletal organization, and RHO family signaling. The gene is also known as FAM65A and C16orf58.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hearing loss, autosomal recessive 104 | Loss-of-function mutations in RIPOR1 disrupt hair cell polarity and stereocilia organization in the inner ear | ClinVar, OMIM |
| Nonsyndromic hearing loss | Biallelic pathogenic variants impair actin dynamics and cell polarization in cochlear hair cells | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Lung | 8.7 | Low |
| Heart | 6.5 | Low |
| Kidney | 5.2 | Low |
| Testis | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 9.8 | Moderate expression in cervical cancer cells |
| K562 | 6.3 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1096C>T (p.Arg366Ter) | Nonsense | Rare | Loss of function; associated with hearing loss |
| c.1435G>A (p.Gly479Arg) | Missense | Rare | Likely damaging; disrupts protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein; associated with autosomal recessive hearing loss.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • cell polarity | • actin cytoskeleton organization |
| • RHO protein signal transduction | • cell migration |
| • stereocilium organization |
Pathways
• RHO GTPase signaling
• Actin cytoskeleton regulation
Protein Summary
The RIPOR1 protein is a regulator of cell polarization and actin dynamics, interacting with RHO family GTPases. It is essential for the maintenance of stereocilia in inner ear hair cells, and its loss leads to hearing impairment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIPOR1 Knockout HEK293 Cell Line | EDJ-KQ2632 | Human | 79567 | Details Get a Quote |
| RIPOR1 Knockout HeLa Cell Line | EDJ-KQ22017 | Human | 79567 | Details Get a Quote |
| RIPOR1 Knockout A-549 Cell Line | EDJ-KQ23383 | Human | 79567 | Details Get a Quote |
| RIPOR1 Knockout HCT 116 Cell Line | EDJ-KQ23384 | Human | 79567 | Details Get a Quote |
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